2153 lines
339 KiB
Text
2153 lines
339 KiB
Text
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" class="no-js no-jr">
|
|
<head>
|
|
<!-- For pinger, set start time and add meta elements. -->
|
|
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
|
|
|
<!-- Logger begin -->
|
|
<meta name="ncbi_db" content="books">
|
|
<meta name="ncbi_pdid" content="book-part">
|
|
<meta name="ncbi_acc" content="NBK558237">
|
|
<meta name="ncbi_domain" content="gene">
|
|
<meta name="ncbi_report" content="reader">
|
|
<meta name="ncbi_type" content="fulltext">
|
|
<meta name="ncbi_objectid" content="">
|
|
<meta name="ncbi_pcid" content="/NBK558237/?report=reader">
|
|
<meta name="ncbi_pagename" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population - GeneReviews® - NCBI Bookshelf">
|
|
<meta name="ncbi_bookparttype" content="appendix">
|
|
<meta name="ncbi_app" content="bookshelf">
|
|
<!-- Logger end -->
|
|
|
|
<!--component id="Page" label="meta"/-->
|
|
<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population - GeneReviews® - NCBI Bookshelf</title>
|
|
<meta charset="utf-8">
|
|
<meta name="apple-mobile-web-app-capable" content="no">
|
|
<meta name="viewport" content="initial-scale=1,minimum-scale=1,maximum-scale=1,user-scalable=no">
|
|
<meta name="jr-col-layout" content="auto">
|
|
<meta name="jr-prev-unit" content="/books/n/gene/founder_afrikaner/?report=reader">
|
|
<meta name="jr-next-unit" content="/books/n/gene/founder_apache/?report=reader">
|
|
<meta name="bk-toc-url" content="/books/n/gene/?report=toc">
|
|
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE">
|
|
<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
|
|
<meta name="citation_title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population">
|
|
<meta name="citation_publisher" content="University of Washington, Seattle">
|
|
<meta name="citation_date" content="2023/12/07">
|
|
<meta name="citation_author" content="Stephanie E Wallace">
|
|
<meta name="citation_author" content="Erik G Puffenberger">
|
|
<meta name="citation_author" content="Lora JH Bean">
|
|
<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK558237/">
|
|
<link rel="schema.DC" href="http://purl.org/DC/elements/1.0/">
|
|
<meta name="DC.Title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population">
|
|
<meta name="DC.Type" content="Text">
|
|
<meta name="DC.Publisher" content="University of Washington, Seattle">
|
|
<meta name="DC.Contributor" content="Stephanie E Wallace">
|
|
<meta name="DC.Contributor" content="Erik G Puffenberger">
|
|
<meta name="DC.Contributor" content="Lora JH Bean">
|
|
<meta name="DC.Date" content="2023/12/07">
|
|
<meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK558237/">
|
|
<meta name="description" content="A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.">
|
|
<meta name="og:title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population">
|
|
<meta name="og:type" content="book">
|
|
<meta name="og:description" content="A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.">
|
|
<meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK558237/">
|
|
<meta name="og:site_name" content="NCBI Bookshelf">
|
|
<meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png">
|
|
<meta name="twitter:card" content="summary">
|
|
<meta name="twitter:site" content="@ncbibooks">
|
|
<meta name="bk-non-canon-loc" content="/books/n/gene/founder_amish/?report=reader">
|
|
<link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK558237/">
|
|
<link href="https://fonts.googleapis.com/css?family=Archivo+Narrow:400,700,400italic,700italic&subset=latin" rel="stylesheet" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/libs.min.css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/jr.min.css">
|
|
<meta name="format-detection" content="telephone=no">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css//books_print.min.css" type="text/css" media="print">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_reader.min.css" type="text/css">
|
|
<style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style>
|
|
|
|
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico">
|
|
<meta name="ncbi_phid" content="CE8B546A7D2A5AD10000000000D800B7.m_5">
|
|
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3849091.css"></head>
|
|
<body>
|
|
<!-- Book content! -->
|
|
|
|
|
|
<div id="jr" data-jr-path="/corehtml/pmc/jatsreader/ptpmc_3.22/"><div class="jr-unsupported"><table class="modal"><tr><td><span class="attn inline-block"></span><br />Your browser does not support the NLM PubReader view.<br />Go to <a href="/pmc/about/pr-browsers/">this page</a> to see a list of supported browsers<br />or return to the <br /><a href="/books/NBK558237/?report=classic">regular view</a>.</td></tr></table></div><div id="jr-ui" class="hidden"><nav id="jr-head"><div class="flexh tb"><div id="jr-tb1"><a id="jr-links-sw" class="hidden" title="Links"><svg xmlns="http://www.w3.org/2000/svg" version="1.1" x="0px" y="0px" viewBox="0 0 70.6 85.3" style="enable-background:new 0 0 70.6 85.3;vertical-align:middle" xml:space="preserve" width="24" height="24">
|
|
<style type="text/css">.st0{fill:#939598;}</style>
|
|
<g>
|
|
<path class="st0" d="M36,0C12.8,2.2-22.4,14.6,19.6,32.5C40.7,41.4-30.6,14,35.9,9.8"></path>
|
|
<path class="st0" d="M34.5,85.3c23.2-2.2,58.4-14.6,16.4-32.5c-21.1-8.9,50.2,18.5-16.3,22.7"></path>
|
|
<path class="st0" d="M34.7,37.1c66.5-4.2-4.8-31.6,16.3-22.7c42.1,17.9,6.9,30.3-16.4,32.5h1.7c-66.2,4.4,4.8,31.6-16.3,22.7 c-42.1-17.9-6.9-30.3,16.4-32.5"></path>
|
|
</g>
|
|
</svg> Books</a></div><div class="jr-rhead f1 flexh"><div class="head"><a href="/books/n/gene/founder_afrikaner/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="body"><div class="t">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population</div><div class="j">GeneReviews® [Internet]</div></div><div class="tail"><a href="/books/n/gene/founder_apache/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></div><div id="jr-tb2"><a id="jr-bkhelp-sw" class="btn wsprkl hidden" title="Help with NLM PubReader">?</a><a id="jr-help-sw" class="btn wsprkl hidden" title="Settings and typography in NLM PubReader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512" preserveAspectRatio="none"><path d="M462,283.742v-55.485l-29.981-10.662c-11.431-4.065-20.628-12.794-25.274-24.001 c-0.002-0.004-0.004-0.009-0.006-0.013c-4.659-11.235-4.333-23.918,0.889-34.903l13.653-28.724l-39.234-39.234l-28.72,13.652 c-10.979,5.219-23.68,5.546-34.908,0.889c-0.005-0.002-0.01-0.003-0.014-0.005c-11.215-4.65-19.933-13.834-24-25.273L283.741,50 h-55.484l-10.662,29.981c-4.065,11.431-12.794,20.627-24.001,25.274c-0.005,0.002-0.009,0.004-0.014,0.005 c-11.235,4.66-23.919,4.333-34.905-0.889l-28.723-13.653l-39.234,39.234l13.653,28.721c5.219,10.979,5.545,23.681,0.889,34.91 c-0.002,0.004-0.004,0.009-0.006,0.013c-4.649,11.214-13.834,19.931-25.271,23.998L50,228.257v55.485l29.98,10.661 c11.431,4.065,20.627,12.794,25.274,24c0.002,0.005,0.003,0.01,0.005,0.014c4.66,11.236,4.334,23.921-0.888,34.906l-13.654,28.723 l39.234,39.234l28.721-13.652c10.979-5.219,23.681-5.546,34.909-0.889c0.005,0.002,0.01,0.004,0.014,0.006 c11.214,4.649,19.93,13.833,23.998,25.271L228.257,462h55.484l10.595-29.79c4.103-11.538,12.908-20.824,24.216-25.525 c0.005-0.002,0.009-0.004,0.014-0.006c11.127-4.628,23.694-4.311,34.578,0.863l28.902,13.738l39.234-39.234l-13.66-28.737 c-5.214-10.969-5.539-23.659-0.886-34.877c0.002-0.005,0.004-0.009,0.006-0.014c4.654-11.225,13.848-19.949,25.297-24.021 L462,283.742z M256,331.546c-41.724,0-75.548-33.823-75.548-75.546s33.824-75.547,75.548-75.547 c41.723,0,75.546,33.824,75.546,75.547S297.723,331.546,256,331.546z"></path></svg></a><a id="jr-fip-sw" class="btn wsprkl hidden" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-rtoc-sw" class="btn wsprkl hidden" title="Table of Contents"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,20h10v8H20V20zM36,20h44v8H36V20zM20,37.33h10v8H20V37.33zM36,37.33h44v8H36V37.33zM20,54.66h10v8H20V54.66zM36,54.66h44v8H36V54.66zM20,72h10v8 H20V72zM36,72h44v8H36V72z"></path></svg></a></div></div></nav><nav id="jr-dash" class="noselect"><nav id="jr-dash" class="noselect"><div id="jr-pi" class="hidden"><a id="jr-pi-prev" class="hidden" title="Previous page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a><div class="pginfo">Page <i class="jr-pg-pn">0</i> of <i class="jr-pg-lp">0</i></div><a id="jr-pi-next" class="hidden" title="Next page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div><div id="jr-is-tb"><a id="jr-is-sw" class="btn wsprkl hidden" title="Switch between Figures/Tables strip and Progress bar"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><rect x="10" y="40" width="20" height="20"></rect><rect x="40" y="40" width="20" height="20"></rect><rect x="70" y="40" width="20" height="20"></rect></svg></a></div><nav id="jr-istrip" class="istrip hidden"><a id="jr-is-prev" href="#" class="hidden" title="Previous"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M80,40 60,65 80,90 70,90 50,65 70,40z M50,40 30,65 50,90 40,90 20,65 40,40z"></path><text x="35" y="25" textLength="60" style="font-size:25px">Prev</text></svg></a><a id="jr-is-next" href="#" class="hidden" title="Next"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,40 40,65 20,90 30,90 50,65 30,40z M50,40 70,65 50,90 60,90 80,65 60,40z"></path><text x="15" y="25" textLength="60" style="font-size:25px">Next</text></svg></a></nav><nav id="jr-progress"></nav></nav></nav><aside id="jr-links-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">NCBI Bookshelf</div></div><div class="cnt lol f1"><a href="/books/">Home</a><a href="/books/browse/">Browse All Titles</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://www.facebook.com/sharer/sharer.php?u=https://www.ncbi.nlm.nih.gov/books/NBK558237/"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24" preserveAspectRatio="none"><g><path d="M 17.996,32L 12,32 L 12,16 l-4,0 l0-5.514 l 4-0.002l-0.006-3.248C 11.993,2.737, 13.213,0, 18.512,0l 4.412,0 l0,5.515 l-2.757,0 c-2.063,0-2.163,0.77-2.163,2.209l-0.008,2.76l 4.959,0 l-0.585,5.514L 18,16L 17.996,32z"></path></g></svg> Share on Facebook</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://twitter.com/intent/tweet?url=https://www.ncbi.nlm.nih.gov/books/NBK558237/&text=Resources%20for%20Genetics%20Professionals%20%02014%20Genetic%20Disorders%20Associated%20with%20Founder%20Variants%20Common%20in%20th..."><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24"><g><path d="M 32,6.076c-1.177,0.522-2.443,0.875-3.771,1.034c 1.355-0.813, 2.396-2.099, 2.887-3.632 c-1.269,0.752-2.674,1.299-4.169,1.593c-1.198-1.276-2.904-2.073-4.792-2.073c-3.626,0-6.565,2.939-6.565,6.565 c0,0.515, 0.058,1.016, 0.17,1.496c-5.456-0.274-10.294-2.888-13.532-6.86c-0.565,0.97-0.889,2.097-0.889,3.301 c0,2.278, 1.159,4.287, 2.921,5.465c-1.076-0.034-2.088-0.329-2.974-0.821c-0.001,0.027-0.001,0.055-0.001,0.083 c0,3.181, 2.263,5.834, 5.266,6.438c-0.551,0.15-1.131,0.23-1.73,0.23c-0.423,0-0.834-0.041-1.235-0.118 c 0.836,2.608, 3.26,4.506, 6.133,4.559c-2.247,1.761-5.078,2.81-8.154,2.81c-0.53,0-1.052-0.031-1.566-0.092 c 2.905,1.863, 6.356,2.95, 10.064,2.95c 12.076,0, 18.679-10.004, 18.679-18.68c0-0.285-0.006-0.568-0.019-0.849 C 30.007,8.548, 31.12,7.392, 32,6.076z"></path></g></svg> Share on Twitter</a></div></aside><aside id="jr-rtoc-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Table of Content</div></div><div class="cnt lol f1"><a href="/books/n/gene/?report=reader">Title Information</a><a href="/books/n/gene/toc/?report=reader">Table of Contents Page</a></div></aside><aside id="jr-help-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Settings</div></div><div class="cnt f1"><div id="jr-typo-p" class="typo"><div><a class="sf btn wsprkl">A-</a><a class="lf btn wsprkl">A+</a></div><div><a class="bcol-auto btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 200 100" preserveAspectRatio="none"><text x="10" y="70" style="font-size:60px;font-family: Trebuchet MS, ArialMT, Arial, sans-serif" textLength="180">AUTO</text></svg></a><a class="bcol-1 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M15,25 85,25zM15,40 85,40zM15,55 85,55zM15,70 85,70z"></path></svg></a><a class="bcol-2 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M5,25 45,25z M55,25 95,25zM5,40 45,40z M55,40 95,40zM5,55 45,55z M55,55 95,55zM5,70 45,70z M55,70 95,70z"></path></svg></a></div></div><div class="lol"><a class="" href="/books/NBK558237/?report=classic">Switch to classic view</a><a href="/books/NBK558237/pdf/Bookshelf_NBK558237.pdf">PDF (406K)</a><a href="/books/NBK558237/?report=printable">Print View</a></div></div></aside><aside id="jr-bkhelp-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Help</div></div><div class="cnt f1 lol"><a id="jr-helpobj-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/help.xml" href="">Help</a><a href="mailto:info@ncbi.nlm.nih.gov?subject=PubReader%20feedback%20%2F%20NBK558237%20%2F%20sid%3ACE8B5AF87C7FFCB1_0191SID%20%2F%20phid%3ACE8B546A7D2A5AD10000000000D800B7.4">Send us feedback</a><a id="jr-about-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/about.xml" href="">About PubReader</a></div></aside><aside id="jr-objectbox" class="thidden hidden"><div class="jr-objectbox-close wsprkl">✘</div><div class="jr-objectbox-inner cnt"><div class="jr-objectbox-drawer"></div></div></aside><nav id="jr-pm-left" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Previous Page</text></svg></nav><nav id="jr-pm-right" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Next Page</text></svg></nav><nav id="jr-fip" class="hidden"><nav id="jr-fip-term-p"><input type="search" placeholder="search this page" id="jr-fip-term" autocorrect="off" autocomplete="off" /><a id="jr-fip-mg" class="wsprkl btn" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-fip-done" class="wsprkl btn" title="Dismiss find">✘</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK558237_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population</span></h1><p class="contribs">Wallace SE, Puffenberger EG, Bean LJH.</p><p class="fm-aai"><a href="#_NBK558237_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 21 minutes</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.</p><p>The table below includes common founder variants – here defined as <b>three or fewer variants that account for more than 50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry</b> – in individuals of Amish ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figfounderamishTgeneticdisordersassoci"><a href="/books/NBK558237/table/founder_amish.T.genetic_disorders_associ/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfounderamishTgeneticdisordersassoci"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="founder_amish.T.genetic_disorders_associ"><a href="/books/NBK558237/table/founder_amish.T.genetic_disorders_associ/?report=objectonly" target="object" rid-ob="figobfounderamishTgeneticdisordersassoci">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Amish Population </p></div></div><div id="founder_amish.Revision_History"><h2 id="_founder_amish_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>7 December 2023 (sw) Revision: <i>ACADM</i>, <i>G6PC</i>, <i>GBA1</i>, <i>MYORG</i>, <i>NPHS2</i>, <i>RAG1</i>, and <i>SORD</i> added; reference sequences and other data updated</div></li><li class="half_rhythm"><div>4 May 2023 (sw) Revision: <i>RMRP</i> variant nomenclature updated from g.70A>G to g.71A>G</div></li><li class="half_rhythm"><div>18 June 2020 (sw) Initial posting</div></li></ul></div><div id="founder_amish.References"><h2 id="_founder_amish_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.ammous.2021.e1009803">Ammous
|
|
Z, Rawlins
|
|
LE, Jones
|
|
H, Leslie
|
|
JS, Wenger
|
|
O, Scott
|
|
E, Deline
|
|
J, Herr
|
|
T, Evans
|
|
R, Scheid
|
|
A, Kennedy
|
|
J, Chioza
|
|
BA, Ames
|
|
RM, Cross
|
|
HE, Puffenberger
|
|
EG, Harries
|
|
L, Baple
|
|
EL, Crosby
|
|
AH. A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
|
|
PLoS Genet.
|
|
2021;17:e1009803.
|
|
[<a href="/pmc/articles/PMC8496849/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8496849</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34570759" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34570759</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.baple.2014a.3137">Baple
|
|
EL, Chambers
|
|
H, Cross
|
|
HE, Fawcett
|
|
H, Nakazawa
|
|
Y, Chioza
|
|
BA, Harlalka
|
|
GV, Mansour
|
|
S, Sreekantan-Nair
|
|
A, Patton
|
|
MA, Muggenthaler
|
|
M, Rich
|
|
P, Wagner
|
|
K, Coblentz
|
|
R, Stein
|
|
CK, Last
|
|
JI, Taylor
|
|
AM, Jackson
|
|
AP, Ogi
|
|
T, Lehmann
|
|
AR, Green
|
|
CM, Crosby
|
|
AH. Hypomorphic PCNA mutation underlies a human DNA repair disorder.
|
|
J Clin Invest.
|
|
2014a;124:3137-46.
|
|
[<a href="/pmc/articles/PMC4071375/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4071375</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24911150" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24911150</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.baple.2014b.87">Baple
|
|
EL, Maroofian
|
|
R, Chioza
|
|
BA, Izadi
|
|
M, Cross
|
|
HE, Al-Turki
|
|
S, Barwick
|
|
K, Skrzypiec
|
|
A, Pawlak
|
|
R, Wagner
|
|
K, Coblentz
|
|
R, Zainy
|
|
T, Patton
|
|
MA, Mansour
|
|
S, Rich
|
|
P, Qualmann
|
|
B, Hurles
|
|
ME, Kessels
|
|
MM, Crosby
|
|
AH. Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
|
|
Am J Hum Genet.
|
|
2014b;94:87-94.
|
|
[<a href="/pmc/articles/PMC3882725/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3882725</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24239382" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24239382</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.baumgartner.2001.495">Baumgartner
|
|
MR, Almashanu
|
|
S, Suormala
|
|
T, Obie
|
|
C, Cole
|
|
RN, Packman
|
|
S, Baumgartner
|
|
ER, Valle
|
|
D. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
|
|
J Clin Invest.
|
|
2001;107:495-504.
|
|
[<a href="/pmc/articles/PMC199271/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC199271</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/11181649" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11181649</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.bull.1998.219">Bull
|
|
LN, van Eijk
|
|
MJ, Pawlikowska
|
|
L, DeYoung
|
|
JA, Juijn
|
|
JA, Liao
|
|
M, Klomp
|
|
LW, Lomri
|
|
N, Berger
|
|
R, Scharschmidt
|
|
BF, Knisely
|
|
AS, Houwen
|
|
RH, Freimer
|
|
NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
|
|
Nat Genet.
|
|
1998;18:219-24.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9500542" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9500542</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.chen.1999.1344">Chen
|
|
Q, Zhang
|
|
D, Gingell
|
|
RL, Moss
|
|
AJ, Napolitano
|
|
C, Priori
|
|
SG, Schwartz
|
|
PJ, Kehoe
|
|
E, Robinson
|
|
JL, Schulze-Bahr
|
|
E, Wang
|
|
Q, Towbin
|
|
JA. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
|
|
Circulation.
|
|
1999;99:1344-7.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/10077519" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10077519</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.crosby.2010.655">Crosby
|
|
AH, Patel
|
|
H, Chioza
|
|
BA, Proukakis
|
|
C, Gurtz
|
|
K, Patton
|
|
MA, Sharifi
|
|
R, Harlalka
|
|
G, Simpson
|
|
MA, Dick
|
|
K, Reed
|
|
JA, Al-Memar
|
|
A, Chrzanowska-Lightowlers
|
|
ZM, Cross
|
|
HE, Lightowlers
|
|
RN. Defective mitochondrial mRNA maturation is associated with spastic ataxia.
|
|
Am J Hum Genet.
|
|
2010;87:655-60.
|
|
[<a href="/pmc/articles/PMC2978972/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2978972</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20970105" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20970105</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.crowgey.2019.687">Crowgey
|
|
EL, Washburn
|
|
MC, Kolb
|
|
EA, Puffenberger
|
|
EG. Development of a novel next-generation sequencing assay for carrier screening in Old Order Amish and Mennonite populations of Pennsylvania.
|
|
J Mol Diagn.
|
|
2019;21:687-94.
|
|
[<a href="/pmc/articles/PMC7338886/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7338886</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31028937" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31028937</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.cystic_fibrosis_genetic_analysis_consortium.1994.167">Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations.
|
|
Hum Mutat.
|
|
1994;4:167-77.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/7530552" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7530552</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.donohoue.1995.163">Donohoue
|
|
PA, Guethlein
|
|
L, Collins
|
|
MM, Van Dop
|
|
C, Migeon
|
|
CJ, Bias
|
|
WB, Schmeckpeper
|
|
BJ. The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
|
|
Tissue Antigens.
|
|
1995;46:163-72.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8525475" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8525475</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.duclos.1998.30">Duclos
|
|
F, Broux
|
|
O, Bourg
|
|
N, Straub
|
|
V, Feldman
|
|
GL, Sunada
|
|
Y, Lim
|
|
LE, Piccolo
|
|
F, Cutshall
|
|
S, Gary
|
|
F, Quetier
|
|
F, Kaplan
|
|
JC, Jackson
|
|
CE, Beckmann
|
|
JS, Campbell
|
|
KP. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
|
|
Neuromuscul Disord.
|
|
1998;8:30-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9565988" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9565988</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.falk.2004.23">Falk
|
|
MJ, Feiler
|
|
HS, Neilson
|
|
DE, Maxwell
|
|
K, Lee
|
|
JV, Segall
|
|
SK, Robin
|
|
NH, Wilhelmsen
|
|
KC, Träskelin
|
|
AL, Kolehmainen
|
|
J, Lehesjoki
|
|
AE, Wiznitzer
|
|
M, Warman
|
|
ML. Cohen syndrome in the Ohio Amish.
|
|
Am J Med Genet A.
|
|
2004;128A:23-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/15211651" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15211651</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.fay.1992.1729">Fay
|
|
WP, Shapiro
|
|
AD, Shih
|
|
JL, Schleef
|
|
RR, Ginsburg
|
|
D. Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.
|
|
N Engl J Med.
|
|
1992;327:1729-33.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/1435917" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1435917</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.ferkol.2013.383">Ferkol
|
|
TW, Puffenberger
|
|
EG, Lie
|
|
H, Helms
|
|
C, Strauss
|
|
KA, Bowcock
|
|
A, Carson
|
|
JL, Hazucha
|
|
M, Morton
|
|
DH, Patel
|
|
AC, Leigh
|
|
MW, Knowles
|
|
MR, Zariwala
|
|
MA. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
|
|
J Pediatr.
|
|
2013;163:383-7.
|
|
[<a href="/pmc/articles/PMC3725203/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3725203</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23477994" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23477994</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.fuchs.2009.286">Fuchs
|
|
T, Gavarini
|
|
S, Saunders-Pullman
|
|
R, Raymond
|
|
D, Ehrlich
|
|
ME, Bressman
|
|
SB, Ozelius
|
|
LJ. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
|
|
Nat Genet.
|
|
2009;41:286-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/19182804" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19182804</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.gibson.1998.519">Gibson
|
|
KM, Bennett
|
|
MJ, Naylor
|
|
EW, Morton
|
|
DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
|
|
J Pediatr.
|
|
1998;132:519-23.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9544913" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9544913</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.gupta.2016.e431">Gupta
|
|
S, Heiman
|
|
M, Duncan
|
|
N, Hinckley
|
|
J, Di Paola
|
|
J, Shapiro
|
|
AD. Variable bleeding phenotype in an Amish pedigree with von Willebrand disease.
|
|
Am J Hematol.
|
|
2016;91:E431-5.
|
|
[<a href="/pmc/articles/PMC5031525/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5031525</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27414491" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27414491</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.halling.1999.97">Halling
|
|
KC, Lazzaro
|
|
CR, Honchel
|
|
R, Bufill
|
|
JA, Powell
|
|
SM, Arndt
|
|
CA, Lindor
|
|
NM. Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene.
|
|
Hum Hered.
|
|
1999;49:97-102.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/10077730" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10077730</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.harlalka.2013a.65">Harlalka
|
|
GV, Baple
|
|
EL, Cross
|
|
H, Kühnle
|
|
S, Cubillos-Rojas
|
|
M, Matentzoglu
|
|
K, Patton
|
|
MA, Wagner
|
|
K, Coblentz
|
|
R, Ford
|
|
DL, Mackay
|
|
DJ, Chioza
|
|
BA, Scheffner
|
|
M, Rosa
|
|
JL, Crosby
|
|
AH. Mutation of HERC2 causes developmental delay with Angelman-like features.
|
|
J Med Genet.
|
|
2013a;50:65-73.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/23243086" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23243086</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.harlalka.2013b.3618">Harlalka
|
|
GV, Lehman
|
|
A, Chioza
|
|
B, Baple
|
|
EL, Maroofian
|
|
R, Cross
|
|
H, Sreekantan-Nair
|
|
A, Priestman
|
|
DA, Al-Turki
|
|
S, McEntagart
|
|
ME, Proukakis
|
|
C, Royle
|
|
L, Kozak
|
|
RP, Bastaki
|
|
L, Patton
|
|
M, Wagner
|
|
K, Coblentz
|
|
R, Price
|
|
J, Mezei
|
|
M, Schlade-Bartusiak
|
|
K, Platt
|
|
FM, Hurles
|
|
ME, Crosby
|
|
AH. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
|
|
Brain.
|
|
2013b;136:3618-24.
|
|
[<a href="/pmc/articles/PMC3859217/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3859217</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24103911" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24103911</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.he.2011.238">He
|
|
H, Liyanarachchi
|
|
S, Akagi
|
|
K, Nagy
|
|
R, Li
|
|
J, Dietrich
|
|
RC, Li
|
|
W, Sebastian
|
|
N, Wen
|
|
B, Xin
|
|
B, Singh
|
|
J, Yan
|
|
P, Alder
|
|
H, Haan
|
|
E, Wieczorek
|
|
D, Albrecht
|
|
B, Puffenberger
|
|
E, Wang
|
|
H, Westman
|
|
JA, Padgett
|
|
RA, Symer
|
|
DE, de la Chapelle
|
|
A. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD
|
|
I. Science.
|
|
2011;332:238-40.
|
|
[<a href="/pmc/articles/PMC3380448/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3380448</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21474760" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21474760</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.hirschhorn.1991.878">Hirschhorn
|
|
R, Chakravarti
|
|
V, Puck
|
|
J, Douglas
|
|
SD. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
|
|
Am J Hum Genet.
|
|
1991;49:878-85.
|
|
[<a href="/pmc/articles/PMC1683191/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1683191</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/1680289" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1680289</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.hoffman.2014.4455">Hoffman
|
|
JD, Cooke Bailey
|
|
JN, D'Aoust
|
|
L, Cade
|
|
W, Ayala-Haedo
|
|
J, Fuzzell
|
|
D, Laux
|
|
R, Adams
|
|
LD, Reinhart-Mercer
|
|
L, Caywood
|
|
L, Whitehead-Gay
|
|
P, Agarwal
|
|
A, Wang
|
|
G, Scott
|
|
WK, Pericak-Vance
|
|
MA, Haines
|
|
JL. Rare complement factor H variant associated with age-related macular degeneration in the Amish.
|
|
Invest Ophthalmol Vis Sci.
|
|
2014;55:4455-60.
|
|
[<a href="/pmc/articles/PMC4107619/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4107619</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24906858" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24906858</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.horani.2012.685">Horani
|
|
A, Druley
|
|
TE, Zariwala
|
|
MA, Patel
|
|
AC, Levinson
|
|
BT, Van Arendonk
|
|
LG, Thornton
|
|
KC, Giacalone
|
|
JC, Albee
|
|
AJ, Wilson
|
|
KS, Turner
|
|
EH, Nickerson
|
|
DA, Shendure
|
|
J, Bayly
|
|
PV, Leigh
|
|
MW, Knowles
|
|
MR, Brody
|
|
SL, Dutcher
|
|
SK, Ferkol
|
|
TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
|
|
Am J Hum Genet.
|
|
2012;91:685-93.
|
|
[<a href="/pmc/articles/PMC3484505/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3484505</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23040496" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23040496</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.horenstein.2013.413">Horenstein
|
|
RB, Mitchell
|
|
BD, Post
|
|
WS, Lütjohann
|
|
D, von Bergmann
|
|
K, Ryan
|
|
KA, Terrin
|
|
M, Shuldiner
|
|
AR, Steinle
|
|
NI. The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish.
|
|
Arterioscler Thromb Vasc Biol.
|
|
2013;33:413-9.
|
|
[<a href="/pmc/articles/PMC3817740/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3817740</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23241408" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23241408</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.jabs.1994.275">Jabs
|
|
EW, Li
|
|
X, Scott
|
|
AF, Meyers
|
|
G, Chen
|
|
W, Eccles
|
|
M, Mao
|
|
JI, Charnas
|
|
LR, Jackson
|
|
CE, Jaye
|
|
M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
|
Nat Genet.
|
|
1994;8:275-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/7874170" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7874170</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.jinks.2015.2173">Jinks
|
|
RN, Puffenberger
|
|
EG, Baple
|
|
E, Harding
|
|
B, Crino
|
|
P, Fogo
|
|
AB, Wenger
|
|
O, Xin
|
|
B, Koehler
|
|
AE, McGlincy
|
|
MH, Provencher
|
|
MM, Smith
|
|
JD, Tran
|
|
L, Al Turki
|
|
S, Chioza
|
|
BA, Cross
|
|
H, Harlalka
|
|
GV, Hurles
|
|
ME, Maroofian
|
|
R, Heaps
|
|
AD, Morton
|
|
MC, Stempak
|
|
L, Hildebrandt
|
|
F, Sadowski
|
|
CE, Zaritsky
|
|
J, Campellone
|
|
K, Morton
|
|
DH, Wang
|
|
H, Crosby
|
|
A, Strauss
|
|
KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
|
|
Brain.
|
|
2015;138:2173-90.
|
|
[<a href="/pmc/articles/PMC4511861/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4511861</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26070982" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26070982</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.kanno.1994.2311">Kanno
|
|
H, Ballas
|
|
SK, Miwa
|
|
S, Fujii
|
|
H, Bowman
|
|
HS. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.
|
|
Blood.
|
|
1994;83:2311-6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8161798" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8161798</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.ketterling.1991.333">Ketterling
|
|
RP, Bottema
|
|
CD, Koeberl
|
|
DD, Ii
|
|
S, Sommer
|
|
SS. T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
|
|
Hum Genet.
|
|
1991;87:333-7.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/1864609" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1864609</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.khan.2017">Khan SS, Shah SJ, Klyachko E, Baldridge AS, Eren M, Place AT, Aviv A, Puterman E, Lloyd-Jones DM, Heiman M, Miyata T, Gupta S, Shapiro AD, Vaughan DE. A null mutation in SERPINE1 protects against biological aging in humans. Sci Adv. 2017;3:eaao1617. [<a href="/pmc/articles/PMC5687852/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5687852</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29152572" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29152572</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.klinger.1983.94">Klinger
|
|
KW. Cystic fibrosis in the Ohio Amish: gene frequency and founder effect.
|
|
Hum Genet.
|
|
1983;65:94-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/6654341" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 6654341</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.kuhl.2017.352">Kuhl
|
|
A, van Calcar
|
|
S, Baker
|
|
M, Seroogy
|
|
CM, Rice
|
|
G, Scott Schwoerer
|
|
J. Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
|
|
Genet Med.
|
|
2017;19:352-6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/27513192" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27513192</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.lahiry.2013.126">Lahiry
|
|
P, Racacho
|
|
L, Wang
|
|
J, Robinson
|
|
JF, Gloor
|
|
GB, Rupar
|
|
CA, Siu
|
|
VM, Bulman
|
|
DE, Hegele
|
|
RA. A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
|
|
Orphanet J Rare Dis.
|
|
2013;8:126.
|
|
[<a href="/pmc/articles/PMC3765793/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3765793</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23957953" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23957953</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.lahiry.2009.134">Lahiry
|
|
P, Wang
|
|
J, Robinson
|
|
JF, Turowec
|
|
JP, Litchfield
|
|
DW, Lanktree
|
|
MB, Gloor
|
|
GB, Puffenberger
|
|
EG, Strauss
|
|
KA, Martens
|
|
MB, Ramsay
|
|
DA, Rupar
|
|
CA, Siu
|
|
V, Hegele
|
|
RA. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
|
|
Am J Hum Genet.
|
|
2009;84:134-47.
|
|
[<a href="/pmc/articles/PMC2668000/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2668000</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19185282" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19185282</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.lernerellis.2006.93">Lerner-Ellis
|
|
JP, Tirone
|
|
JC, Pawelek
|
|
PD, Doré
|
|
C, Atkinson
|
|
JL, Watkins
|
|
D, Morel
|
|
CF, Fujiwara
|
|
TM, Moras
|
|
E, Hosack
|
|
AR, Dunbar
|
|
GV, Antonicka
|
|
H, Forgetta
|
|
V, Dobson
|
|
CM, Leclerc
|
|
D, Gravel
|
|
RA, Shoubridge
|
|
EA, Coulton
|
|
JW, Lepage
|
|
P, Rommens
|
|
JM, Morgan
|
|
K, Rosenblatt
|
|
DS. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
|
|
Nat Genet.
|
|
2006;38:93-100.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16311595" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16311595</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.li.2018.699">Li
|
|
S, Xi
|
|
Q, Zhang
|
|
X, Yu
|
|
D, Li
|
|
L, Jiang
|
|
Z, Chen
|
|
Q, Wang
|
|
QK, Traboulsi
|
|
EI. Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
|
|
Mol Genet Genomics.
|
|
2018;293:699-710.
|
|
[<a href="/pmc/articles/PMC5949075/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5949075</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29322253" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29322253</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.lohr.2010.447">Lohr
|
|
NJ, Molleston
|
|
JP, Strauss
|
|
KA, Torres-Martinez
|
|
W, Sherman
|
|
EA, Squires
|
|
RH, Rider
|
|
NL, Chikwava
|
|
KR, Cummings
|
|
OW, Morton
|
|
DH, Puffenberger
|
|
EG. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
|
|
Am J Hum Genet.
|
|
2010;86:447-53.
|
|
[<a href="/pmc/articles/PMC2833372/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2833372</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20170897" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20170897</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.lynch.2022.2119">Lynch
|
|
MT, Maloney
|
|
KA, Pollin
|
|
TI, Streeten
|
|
EA, Puffenberger
|
|
EG, Strauss
|
|
KA; Regeneron Genetics Center; Shuldiner AR, Mitchell BD. Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
|
|
Am J Med Genet A.
|
|
2022;188:2119-28.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/35442562" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35442562</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.martin.2000.422">Martin
|
|
SN, Sutherland
|
|
J, Levin
|
|
A, Klose
|
|
R, Priston
|
|
M, Heon
|
|
E. Molecular characterization of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.
|
|
J Med Genet.
|
|
2000;37:422-7.
|
|
[<a href="/pmc/articles/PMC1734606/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1734606</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/10851252" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10851252</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.mckusick.1965.285">McKusick
|
|
VA, Eldridge
|
|
R, Hostetler
|
|
JA, Egeland
|
|
JA, Ruangwit
|
|
U. Dwarfism in the Amish. II. Cartilage-hair hypoplasia.
|
|
Bull Johns Hopkins Hosp.
|
|
1965;116:285-326.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/14284412" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14284412</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.mitsuuchi.1993.864">Mitsuuchi
|
|
Y, Kawamoto
|
|
T, Miyahara
|
|
K, Ulick
|
|
S, Morton
|
|
DH, Naiki
|
|
Y, Kuribayashi
|
|
I, Toda
|
|
K, Hara
|
|
T, Orii
|
|
T, et al.
|
|
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.
|
|
Biochem Biophys Res Commun.
|
|
1993;190:864-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8439335" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8439335</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.morimoto.2018.794">Morimoto
|
|
M, Waller-Evans
|
|
H, Ammous
|
|
Z, Song
|
|
X, Strauss
|
|
KA, Pehlivan
|
|
D, Gonzaga-Jauregui
|
|
C, Puffenberger
|
|
EG, Holst
|
|
CR, Karaca
|
|
E, Brigatti
|
|
KW, Maguire
|
|
E, Coban-Akdemir
|
|
ZH, Amagata
|
|
A, Lau
|
|
CC, Chepa-Lotrea
|
|
X, Macnamara
|
|
E, Tos
|
|
T, Isikay
|
|
S, Nehrebecky
|
|
M, Overton
|
|
JD, Klein
|
|
M, Markello
|
|
TC, Posey
|
|
JE, Adams
|
|
DR, Lloyd-Evans
|
|
E, Lupski
|
|
JR, Gahl
|
|
WA, Malicdan
|
|
MCV. Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay.
|
|
Am J Hum Genet.
|
|
2018;103:794-807.
|
|
[<a href="/pmc/articles/PMC6218603/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6218603</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30401460" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30401460</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.morlet.2014.e95">Morlet
|
|
T, Rabinowitz
|
|
MR, Looney
|
|
LR, Riegner
|
|
T, Greenwood
|
|
LA, Sherman
|
|
EA, Achilly
|
|
N, Zhu
|
|
A, Yoo
|
|
E, O'Reilly
|
|
RC, Jinks
|
|
RN, Puffenberger
|
|
EG, Heaps
|
|
A, Morton
|
|
H, Strauss
|
|
KA. A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
|
|
Laryngoscope.
|
|
2014;124:E95-103.
|
|
[<a href="/pmc/articles/PMC3925201/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3925201</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23946138" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23946138</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.muggenthaler.2017.e1006470">Muggenthaler
|
|
MM, Chowdhury
|
|
B, Hasan
|
|
SN, Cross
|
|
HE, Mark
|
|
B, Harlalka
|
|
GV, Patton
|
|
MA, Ishida
|
|
M, Behr
|
|
ER, Sharma
|
|
S, Zahka
|
|
K, Faqeih
|
|
E, Blakley
|
|
B, Jackson
|
|
M, Lees
|
|
M, Dolinsky
|
|
V, Cross
|
|
L, Stanier
|
|
P, Salter
|
|
C, Baple
|
|
EL, Alkuraya
|
|
FS, Crosby
|
|
AH, Triggs-Raine
|
|
B, Chioza
|
|
BA. Mutations in HYAL2, encoding hyaluronidase 2, cause a syndrome of orofacial clefting and cor triatriatum sinister in humans and mice.
|
|
PLoS Genet.
|
|
2017;13:e1006470.
|
|
[<a href="/pmc/articles/PMC5230738/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5230738</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28081210" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28081210</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.nakabayashi.2005.510">Nakabayashi
|
|
K, Amann
|
|
D, Ren
|
|
Y, Saarialho-Kere
|
|
U, Avidan
|
|
N, Gentles
|
|
S, MacDonald
|
|
JR, Puffenberger
|
|
EG, Christiano
|
|
AM, Martinez-Mir
|
|
A, Salas-Alanis
|
|
JC, Rizzo
|
|
R, Vamos
|
|
E, Raams
|
|
A, Les
|
|
C, Seboun
|
|
E, Jaspers
|
|
NG, Beckmann
|
|
JS, Jackson
|
|
CE, Scherer
|
|
SW. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
|
|
Am J Hum Genet.
|
|
2005;76:510-6.
|
|
[<a href="/pmc/articles/PMC1196401/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1196401</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15645389" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15645389</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.nomoto.1997.382">Nomoto
|
|
S, Massa
|
|
G, Mitani
|
|
F, Ishimura
|
|
Y, Miyahara
|
|
K, Toda
|
|
K, Nagano
|
|
I, Yamashiro
|
|
T, Ogoshi
|
|
S, Fukata
|
|
J, Onishi
|
|
S, Hashimoto
|
|
K, Doi
|
|
Y, Imura
|
|
H, Shizuta
|
|
Y.
|
|
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
|
|
Biochem Biophys Res Commun.
|
|
1997;234:382-5.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9177280" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9177280</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.pannain.1999.1061">Pannain
|
|
S, Weiss
|
|
RE, Jackson
|
|
CE, Dian
|
|
D, Beck
|
|
JC, Sheffield
|
|
VC, Cox
|
|
N, Refetoff
|
|
S. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
|
|
J Clin Endocrinol Metab.
|
|
1999;84:1061-71.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/10084596" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10084596</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.puffenberger.2021.3322">Puffenberger
|
|
EG. Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.
|
|
Am J Med Genet A.
|
|
2021;185:3322-33.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/34532947" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34532947</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.patel.2002.347">Patel
|
|
H, Cross
|
|
H, Proukakis
|
|
C, Hershberger
|
|
R, Bork
|
|
P, Ciccarelli
|
|
FD, Patton
|
|
MA, McKusick
|
|
VA, Crosby
|
|
AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
|
|
Nat Genet.
|
|
2002;31:347-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12134148" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12134148</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.puffenberger.2004.11689">Puffenberger
|
|
EG, Hu-Lince
|
|
D, Parod
|
|
JM, Craig
|
|
DW, Dobrin
|
|
SE, Conway
|
|
AR, Donarum
|
|
EA, Strauss
|
|
KA, Dunckley
|
|
T, Cardenas
|
|
JF, Melmed
|
|
KR, Wright
|
|
CA, Liang
|
|
W, Stafford
|
|
P, Flynn
|
|
CR, Morton
|
|
DH, Stephan
|
|
DA. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
|
|
Proc Natl Acad Sci U S A.
|
|
2004;101:11689-94.
|
|
[<a href="/pmc/articles/PMC511011/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC511011</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15273283" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15273283</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.puffenberger.2012.e28936">Puffenberger
|
|
EG, Jinks
|
|
RN, Sougnez
|
|
C, Cibulskis
|
|
K, Willert
|
|
RA, Achilly
|
|
NP, Cassidy
|
|
RP, Fiorentini
|
|
CJ, Heiken
|
|
KF, Lawrence
|
|
JJ, Mahoney
|
|
MH, Miller
|
|
CJ, Nair
|
|
DT, Politi
|
|
KA, Worcester
|
|
KN, Setton
|
|
RA, Dipiazza
|
|
R, Sherman
|
|
EA, Eastman
|
|
JT, Francklyn
|
|
C, Robey-Bond
|
|
S, Rider
|
|
NL, Gabriel
|
|
S, Morton
|
|
DH, Strauss
|
|
KA. Genetic mapping and exome sequencing identify variants associated with five novel diseases.
|
|
PLoS One.
|
|
2012;7:e28936.
|
|
[<a href="/pmc/articles/PMC3260153/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3260153</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22279524" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22279524</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.rawlins.2019.657">Rawlins
|
|
LE, Jones
|
|
H, Wenger
|
|
O, Aye
|
|
M, Fasham
|
|
J, Harlalka
|
|
GV, Chioza
|
|
BA, Miron
|
|
A, Ellard
|
|
S, Wakeling
|
|
M, Crosby
|
|
AH, Baple
|
|
EL. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
|
|
Eur J Hum Genet.
|
|
2019;27:657-62.
|
|
[<a href="/pmc/articles/PMC6420058/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6420058</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30622327" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30622327</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.reichardt.1991.860">Reichardt
|
|
JK, Packman
|
|
S, Woo
|
|
SL. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
|
|
Am J Hum Genet.
|
|
1991;49:860-7.
|
|
[<a href="/pmc/articles/PMC1683190/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1683190</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/1897530" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1897530</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.richard.1995.27">Richard
|
|
I, Broux
|
|
O, Allamand
|
|
V, Fougerousse
|
|
F, Chiannilkulchai
|
|
N, Bourg
|
|
N, Brenguier
|
|
L, Devaud
|
|
C, Pasturaud
|
|
P, Roudaut
|
|
C.
|
|
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
|
Cell.
|
|
1995;81:27-40.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/7720071" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7720071</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.ridanp__.2003.81">Ridanpää
|
|
M, Jain
|
|
P, McKusick
|
|
VA, Francomano
|
|
CA, Kaitila
|
|
I. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.
|
|
Am J Med Genet C Semin Med Genet.
|
|
2003;121C:81-3.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12888988" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12888988</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.rupar.2001.615">Rupar
|
|
CA, Matsell
|
|
D, Surry
|
|
S, Siu
|
|
V. A
|
|
G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.
|
|
J Med Genet.
|
|
2001;38:615-6.
|
|
[<a href="/pmc/articles/PMC1734937/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1734937</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/11565547" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11565547</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.schwoerer.2018.75">Schwoerer
|
|
JS, Drilias
|
|
N, Kuhl
|
|
A, Mochal
|
|
S, Baker
|
|
M. Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
|
|
Mol Genet Metab Rep.
|
|
2018;15:75-77.
|
|
[<a href="/pmc/articles/PMC5857495/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5857495</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29560316" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29560316</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.scott.2022.453">Scott
|
|
EM, Wenger
|
|
OK, Robinson
|
|
E, Colling
|
|
K, Brown
|
|
MF, Hershberger
|
|
J, Radhakrishnan
|
|
K. Glycogen storage disease type 1a in the Ohio Amish.
|
|
JIMD Rep.
|
|
2022;63:453-61.
|
|
[<a href="/pmc/articles/PMC9458600/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9458600</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36101819" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36101819</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.seidelmann.2018.1763">Seidelmann
|
|
SB, Feofanova
|
|
E, Yu
|
|
B, Franceschini
|
|
N, Claggett
|
|
B, Kuokkanen
|
|
M, Puolijoki
|
|
H, Ebeling
|
|
T, Perola
|
|
M, Salomaa
|
|
V, Shah
|
|
A, Coresh
|
|
J, Selvin
|
|
E, MacRae
|
|
CA, Cheng
|
|
S, Boerwinkle
|
|
E, Solomon
|
|
SD. Genetic variants in SGLT1, glucose tolerance, and cardiometabolic risk.
|
|
J Am Coll Cardiol.
|
|
2018;72:1763-73.
|
|
[<a href="/pmc/articles/PMC6403489/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6403489</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30286918" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30286918</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.shen.2010.1850">Shen
|
|
H, Damcott
|
|
CM, Rampersaud
|
|
E, Pollin
|
|
TI, Horenstein
|
|
RB, McArdle
|
|
PF, Peyser
|
|
PA, Bielak
|
|
LF, Post
|
|
WS, Chang
|
|
YP, Ryan
|
|
KA, Miller
|
|
M, Rumberger
|
|
JA, Sheedy
|
|
PF
|
|
2nd, Shelton
|
|
J, O'Connell
|
|
JR, Shuldiner
|
|
AR, Mitchell
|
|
BD. Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the Old Order Amish.
|
|
Arch Intern Med.
|
|
2010;170:1850-5.
|
|
[<a href="/pmc/articles/PMC3587042/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3587042</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21059979" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21059979</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.sherman.2008.604">Sherman
|
|
EA, Strauss
|
|
KA, Tortorelli
|
|
S, Bennett
|
|
MJ, Knerr
|
|
I, Morton
|
|
DH, Puffenberger
|
|
EG. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
|
|
Am J Hum Genet.
|
|
2008;83:604-9.
|
|
[<a href="/pmc/articles/PMC2668038/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2668038</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18926513" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18926513</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.simpson.2004.1225">Simpson
|
|
MA, Cross
|
|
H, Proukakis
|
|
C, Priestman
|
|
DA, Neville
|
|
DC, Reinkensmeier
|
|
G, Wang
|
|
H, Wiznitzer
|
|
M, Gurtz
|
|
K, Verganelaki
|
|
A, Pryde
|
|
A, Patton
|
|
MA, Dwek
|
|
RA, Butters
|
|
TD, Platt
|
|
FM, Crosby
|
|
AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
|
|
Nat Genet.
|
|
2004;36:1225-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/15502825" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15502825</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.simpson.2003.1147">Simpson
|
|
MA, Cross
|
|
H, Proukakis
|
|
C, Pryde
|
|
A, Hershberger
|
|
R, Chatonnet
|
|
A, Patton
|
|
MA, Crosby
|
|
AH. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
|
|
Am J Hum Genet.
|
|
2003;73:1147-56.
|
|
[<a href="/pmc/articles/PMC1180493/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1180493</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/14564668" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14564668</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.strauss.2018.31">Strauss
|
|
KA, Gonzaga-Jauregui
|
|
C, Brigatti
|
|
KW, Williams
|
|
KB, King
|
|
AK, Van Hout
|
|
C, Robinson
|
|
DL, Young
|
|
M, Praveen
|
|
K, Heaps
|
|
AD, Kuebler
|
|
M, Baras
|
|
A, Reid
|
|
JG, Overton
|
|
JD, Dewey
|
|
FE, Jinks
|
|
RN, Finnegan
|
|
I, Mellis
|
|
SJ, Shuldiner
|
|
AR, Puffenberger
|
|
EG. Genomic diagnostics within a medically underserved population: efficacy and implications.
|
|
Genet Med.
|
|
2018;20:31-41.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/28726809" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28726809</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.strauss.2015.121">Strauss
|
|
KA, Jinks
|
|
RN, Puffenberger
|
|
EG, Venkatesh
|
|
S, Singh
|
|
K, Cheng
|
|
I, Mikita
|
|
N, Thilagavathi
|
|
J, Lee
|
|
J, Sarafianos
|
|
S, Benkert
|
|
A, Koehler
|
|
A, Zhu
|
|
A, Trovillion
|
|
V, McGlincy
|
|
M, Morlet
|
|
T, Deardorff
|
|
M, Innes
|
|
AM, Prasad
|
|
C, Chudley
|
|
AE, Lee
|
|
IN, Suzuki
|
|
CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
|
|
Am J Hum Genet.
|
|
2015;96:121-35.
|
|
[<a href="/pmc/articles/PMC4289676/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4289676</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25574826" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25574826</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.strauss.2007.165">Strauss
|
|
KA, Morton
|
|
DH, Puffenberger
|
|
EG, Hendrickson
|
|
C, Robinson
|
|
DL, Wagner
|
|
C, Stabler
|
|
SP, Allen
|
|
RH, Chwatko
|
|
G, Jakubowski
|
|
H, Niculescu
|
|
MD, Mudd
|
|
SH. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
|
|
Mol Genet Metab.
|
|
2007;91:165-75.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/17409006" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17409006</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.strauss.2009.513">Strauss
|
|
KA, Puffenberger
|
|
EG. Genetics, medicine, and the Plain people.
|
|
Annu Rev Genomics Hum Genet.
|
|
2009;10:513-36.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/19630565" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19630565</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.sundin.2005.9553">Sundin
|
|
OH, Leppert
|
|
GS, Silva
|
|
ED, Yang
|
|
JM, Dharmaraj
|
|
S, Maumenee
|
|
IH, Santos
|
|
LC, Parsa
|
|
CF, Traboulsi
|
|
EI, Broman
|
|
KW, Dibernardo
|
|
C, Sunness
|
|
JS, Toy
|
|
J, Weinberg
|
|
EM. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
|
|
Proc Natl Acad Sci U S A.
|
|
2005;102:9553-8.
|
|
[<a href="/pmc/articles/PMC1172243/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1172243</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15976030" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15976030</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.tekin.2013.2094">Tekin
|
|
M, Chioza
|
|
BA, Matsumoto
|
|
Y, Diaz-Horta
|
|
O, Cross
|
|
HE, Duman
|
|
D, Kokotas
|
|
H, Moore-Barton
|
|
HL, Sakoori
|
|
K, Ota
|
|
M, Odaka
|
|
YS, Foster
|
|
J
|
|
2nd, Cengiz
|
|
FB, Tokgoz-Yilmaz
|
|
S, Tekeli
|
|
O, Grigoriadou
|
|
M, Petersen
|
|
MB, Sreekantan-Nair
|
|
A, Gurtz
|
|
K, Xia
|
|
XJ, Pandya
|
|
A, Patton
|
|
MA, Young
|
|
JI, Aruga
|
|
J, Crosby
|
|
AH. SLITRK6 mutations cause myopia and deafness in humans and mice.
|
|
J Clin Invest.
|
|
2013;123:2094-102.
|
|
[<a href="/pmc/articles/PMC3635725/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3635725</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23543054" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23543054</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.telatar.1998.86">Telatar
|
|
M, Teraoka
|
|
S, Wang
|
|
Z, Chun
|
|
HH, Liang
|
|
T, Castellvi-Bel
|
|
S, Udar
|
|
N, Borresen-Dale
|
|
AL, Chessa
|
|
L, Bernatowska-Matuszkiewicz
|
|
E, Porras
|
|
O, Watanabe
|
|
M, Junker
|
|
A, Concannon
|
|
P, Gatti
|
|
RA. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
|
Am J Hum Genet.
|
|
1998;62:86-97.
|
|
[<a href="/pmc/articles/PMC1376800/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1376800</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/9443866" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9443866</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.tripathi.1992.865">Tripathi
|
|
RK, Strunk
|
|
KM, Giebel
|
|
LB, Weleber
|
|
RG, Spritz
|
|
RA. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
|
|
Am J Med Genet.
|
|
1992;43:865-71.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/1642278" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1642278</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.wang.2013.875">Wang
|
|
H, Bright
|
|
A, Xin
|
|
B, Bockoven
|
|
JR, Paller
|
|
AS. Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.
|
|
Am J Med Genet.
|
|
2013;161A:875-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/23436467" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23436467</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.wang.2006.580">Wang
|
|
H, Kurien
|
|
BT, Lundgren
|
|
D, Patel
|
|
NC, Kaufman
|
|
KM, Miller
|
|
DL, Porter
|
|
AC, D'Souza
|
|
A, Nye
|
|
L, Tumbush
|
|
J, Hupertz
|
|
V, Kerr
|
|
DS, Kurono
|
|
S, Matsumoto
|
|
H, Scofield
|
|
RH. A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
|
|
Am J Med Genet A.
|
|
2006;140:580-5.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16470701" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16470701</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.wang.2007.1938">Wang
|
|
H, Nye
|
|
L, Puffenberger
|
|
E, Morton
|
|
H. Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
|
|
Am J Med Genet A.
|
|
2007;143A:1938-40.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/17630668" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17630668</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.williams.2019.525">Williams
|
|
KB, Brigatti
|
|
KW, Puffenberger
|
|
EG, Gonzaga-Jauregui
|
|
C, Griffin
|
|
LB, Martinez
|
|
ED, Wenger
|
|
OK, Yoder
|
|
MA, Kandula
|
|
VVR, Fox
|
|
MD, Demczko
|
|
MM, Poskitt
|
|
L, Furuya
|
|
KN, Reid
|
|
JG, Overton
|
|
JD, Baras
|
|
A, Miles
|
|
L, Radhakrishnan
|
|
K, Carson
|
|
VJ, Antonellis
|
|
A, Jinks
|
|
RN, Strauss
|
|
KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
|
|
Hum Mol Genet.
|
|
2019;28:525-38.
|
|
[<a href="/pmc/articles/PMC6360277/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6360277</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30304524" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30304524</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2011.5372">Xin
|
|
B, Jones
|
|
S, Puffenberger
|
|
EG, Hinze
|
|
C, Bright
|
|
A, Tan
|
|
H, Zhou
|
|
A, Wu
|
|
G, Vargus-Adams
|
|
J, Agamanolis
|
|
D, Wang
|
|
H. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
|
|
Proc Natl Acad Sci U S A.
|
|
2011;108:5372-7.
|
|
[<a href="/pmc/articles/PMC3069167/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3069167</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21402907" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21402907</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2008.274">Xin
|
|
B, Puffenberger
|
|
E, Nye
|
|
L, Wiznitzer
|
|
M, Wang
|
|
H.
|
|
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
|
|
Clin Genet.
|
|
2008;74:274-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/18492089" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18492089</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2007.2662">Xin
|
|
B, Puffenberger
|
|
E, Tumbush
|
|
J, Bockoven
|
|
JR, Wang
|
|
H. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.
|
|
Am J Med Genet A.
|
|
2007;143A:2662-7.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/17937428" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17937428</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2010.258">Xin
|
|
B, Puffenberger
|
|
EG, Turben
|
|
S, Tan
|
|
H, Zhou
|
|
A, Wang
|
|
H. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
|
|
Proc Natl Acad Sci U S A.
|
|
2010;107:258-63.
|
|
[<a href="/pmc/articles/PMC2806776/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2806776</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20018682" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20018682</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2013.288">Xin
|
|
B, Wang
|
|
H.
|
|
Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.
|
|
Mol Syndromol.
|
|
2013;3:288-90.
|
|
[<a href="/pmc/articles/PMC3569105/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3569105</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23599700" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23599700</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.xin.2011.86">Xin
|
|
B, Wang
|
|
H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.
|
|
Clin Genet.
|
|
2011;79:86-91.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/20486940" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20486940</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_amish.REF.zhou.2001.345">Zhou
|
|
B, Westaway
|
|
SK, Levinson
|
|
B, Johnson
|
|
MA, Gitschier
|
|
J, Hayflick
|
|
SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
|
|
Nat Genet.
|
|
2001;28:345-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/11479594" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11479594</span></a>]</div></p></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK558237_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, Pediatrics<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.wu@2rotide" class="oemail">ude.wu@2rotide</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Erik G Puffenberger</span>, PhD<div class="affiliation small">Laboratory Director, Clinic for Special Children<br />Strasburg, Pennsylvania</div></div><div class="contrib half_rhythm"><span itemprop="author">Lora JH Bean</span>, PhD<div class="affiliation small">Molecular Genetics Editor, <i>GeneReviews</i></div><div class="affiliation small">Senior Director, Laboratory Quality Assurance<br />Perkin-Elmer Genomics, Inc<br />Pittsburgh, Pennsylvania</div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">June 18, 2020</span>; Last Revision: <span itemprop="dateModified">December 7, 2023</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
|
|
a registered trademark of the University of Washington, Seattle. All rights
|
|
reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
|
|
hereby granted to reproduce, distribute, and translate copies of content materials for
|
|
noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
|
|
Washington) are included with each copy; (ii) a link to the original material is provided
|
|
whenever the material is published elsewhere on the Web; and (iii) reproducers,
|
|
distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
|
|
of GeneReviews chapters for use in lab reports and clinic notes are a permitted
|
|
use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
|
|
contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Wallace SE, Puffenberger EG, Bean LJH. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population. 2020 Jun 18 [Updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/founder_afrikaner/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/founder_apache/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobfounderamishTgeneticdisordersassoci"><div id="founder_amish.T.genetic_disorders_associ" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Amish Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK558237/table/founder_amish.T.genetic_disorders_associ/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_amish.T.genetic_disorders_associ_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Pathogenic<br />Variants<br />in Gene <sup>2</sup></th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Carrier Frequency</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity (Specific Region)</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">References <sup>3</sup></th></tr></thead><tbody><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ABCG8</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/stsl/?report=reader">Sitosterolemia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1720G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly574Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/28 to 1/31</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002437.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002437<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_071882.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_071882<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.horenstein.2013.413" rid="founder_amish.REF.horenstein.2013.413">Horenstein et al [2013]</a>, <a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ACADM</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mcad/?report=reader">Medium-chain acyl-coenzyme A dehydrogenase deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.199T>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr67His</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/21 to 1/38</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000016.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000016<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_00007.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_00007<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ADA</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/ada/?report=reader">Adenosine deaminase deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.646G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly216Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000022.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000022<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000013.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000013<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.hirschhorn.1991.878" rid="founder_amish.REF.hirschhorn.1991.878">Hirschhorn et al [1991]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ADAMTS10</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/weill-ms/?report=reader">Weill-Marchesani syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17,346-bp del<br />(del exon 15)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NG_011840.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_011840<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>APC</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hereditary desmoid disease (See <a href="/books/n/gene/fap/?report=reader"><i>APC</i>-Associated Polyposis Conditions</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Insertion of 337 bp of Alu I sequence cd. 1526 <sup>1</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NG_008481.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_008481<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.halling.1999.97" rid="founder_amish.REF.halling.1999.97">Halling et al [1999]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>APOB</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hyperchol/?report=reader">Familial hypercholesterolemia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.10580G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg3527Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000384.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000384<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000375.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000375<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.shen.2010.1850" rid="founder_amish.REF.shen.2010.1850">Shen et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATM</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-telangiectasia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1564_1565delGA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu522IlefsTer43</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000051.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000051<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000042.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000042<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.telatar.1998.86" rid="founder_amish.REF.telatar.1998.86">Telatar et al [1998]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATP8B1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/pfic/?report=reader">ATP8B1 deficiency</a> (Byler disease)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.923G>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly308Val</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/101 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005603.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005603<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005594.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005594<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.bull.1998.219" rid="founder_amish.REF.bull.1998.219">Bull et al [1998]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>B4GALNT1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR spastic paraplegia, type 26 (OMIM <a href="https://omim.org/entry/609195" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">609195</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1514G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg505His</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/150</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001478.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001478<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001469.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001469<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.harlalka.2013b.3618" rid="founder_amish.REF.harlalka.2013b.3618">Harlalka et al [2013b]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BAAT</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial hypercholanemia (See <a href="/books/n/gene/chol-liver-ov/?report=reader">Pediatric Genetic Cholestatic Liver Disease Overview</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.226A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Met76Val</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/18</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001701.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001701<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001692.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001692<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BBS1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1169T>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.Met390Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/25</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024649.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024649<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_078925.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_078925<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BRAT1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rigidity and multifocal seizure syndrome, lethal neonatal (OMIM <a href="https://omim.org/entry/614498" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614498</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.638dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val214GlyfsTer189</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/21 to 1/36</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_152743.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_152743<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_689956.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_689956<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BRCA2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/brca1/?report=reader">Hereditary breast and ovarian cancer</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.5073dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Trp1692MetfsTer3</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Somerset Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000059.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000059<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000050.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000050<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BTD</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/biotin/?report=reader">Biotinidase deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1270G>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp424His<br />(Asp444His)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001370658.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001370658<wbr style="display:inline-block"></wbr>​.1</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001357587.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001357587<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1308A>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln436His<br />(Gln456His)</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CACNA1A</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Episodic ataxia type 2 (OMIM <a href="https://omim.org/entry/108500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">108500</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3043G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu1015Lys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001127221.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001127221<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001120693.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001120693<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CACNA1G</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic-astatic epilepsy</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.6806_6807delCT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser2269TyrfsTer20</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/151 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_018896.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018896<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061496.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061496<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CAPN3</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Limb girdle muscular dystrophy 2A (See <a href="/books/n/gene/lgmd2a/?report=reader">Calpainopathy</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2306G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg769Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/44 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (northern IN & Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000070.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000070<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000061.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000061<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.richard.1995.27" rid="founder_amish.REF.richard.1995.27">Richard et al [1995]</a>, <a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CCDC47</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Trichohepatoneurodevelopmental syndrome (OMIM <a href="https://omim.org/entry/618268" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618268</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1145delT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu382ArgfsTer2</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020198.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_020198<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_064583.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_064583<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.morimoto.2018.794" rid="founder_amish.REF.morimoto.2018.794">Morimoto et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CEP55</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hydranencephaly with renal aplasia-dysplasia (OMIM <a href="https://omim.org/entry/236500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">236500</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.514dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile172AsnfsTer17</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001127182.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001127182<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001120654.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001120654<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.rawlins.2019.657" rid="founder_amish.REF.rawlins.2019.657">Rawlins et al [2019]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CFH</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Age-related macular degeneration, type 4 (OMIM <a href="https://omim.org/entry/610698" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610698</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1507C>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro503Ala</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~90%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH & IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000186.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000186<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000177.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000177<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.hoffman.2014.4455" rid="founder_amish.REF.hoffman.2014.4455">Hoffman et al [2014]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CFTR</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic fibrosis</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1521_1523delCTT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe508del</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">77%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">1/13</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish, Amish (Holmes Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000492.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000492<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000483.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000483<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.klinger.1983.94" rid="founder_amish.REF.klinger.1983.94">Klinger [1983]</a>, <a class="bibr" href="#founder_amish.REF.cystic_fibrosis_genetic_analysis_consortium.1994.167" rid="founder_amish.REF.cystic_fibrosis_genetic_analysis_consortium.1994.167">Cystic Fibrosis Genetic Analysis Consortium [1994]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1364C>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala455Glu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7%</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.3773dupT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu1258PhefsTer7</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17%</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CHRNG</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Multiple pterygium syndrome, Escobar variant (OMIM <a href="https://omim.org/entry/265000" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">265000</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.459dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val154SerfsTer24</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/76 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005199.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005199<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005190.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005190<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CHST3</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cd-chst3/?report=reader">Spondyloepiphyseal dysplasia and humerospinal dysostosis</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1298C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro433Leu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004273.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004273<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004264.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004264<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.crowgey.2019.687" rid="founder_amish.REF.crowgey.2019.687">Crowgey et al [2019]</a>, <a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CILK1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Endocrine-cerebroosteodysplasia (OMIM <a href="https://omim.org/entry/612651" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612651</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.815G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg272Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/51</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Ontario, Canada)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_016513.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_016513<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_057597.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_057597<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lahiry.2009.134" rid="founder_amish.REF.lahiry.2009.134">Lahiry et al [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CLCNKB</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bartter syndrome, type 3 (OMIM <a href="https://omim.org/entry/607364" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607364</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Del entire gene<br />(22,508-bp del)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster, Juniata, & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NG_013079.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_013079<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CNNM4</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Jalili syndrome (OMIM <a href="https://omim.org/entry/217080" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">217080</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1813C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg605Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020184.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_020184<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_064569.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_064569<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.li.2018.699" rid="founder_amish.REF.li.2018.699">Li et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CNTNAP2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cortical dysplasia-focal epilepsy syndrome (OMIM <a href="https://omim.org/entry/610042" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610042</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3709delG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp1237IlefsTer17</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/16 to 1/24</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_014141.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014141<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_054860.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_054860<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>COL1A2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/oi/?report=reader">Osteogenesis imperfecta</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2098G>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly700Cys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000089.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000089<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000080.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000080<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CTNS</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/ctns/?report=reader">Cystinosis</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1015G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly339Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Ontario, Canada)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004937.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004937<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004928.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004928<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.rupar.2001.615" rid="founder_amish.REF.rupar.2001.615">Rupar et al [2001]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYBB</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cgd/?report=reader">Chronic granulomatous disease</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1335C>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys445Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (MD)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000397.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000397<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000388.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000388<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYP11B1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11-beta-hydroxylase deficiency (OMIM <a href="https://omim.org/entry/202010" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">202010</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1343G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg448His</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000497.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000497<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000488.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000488<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYP11B2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cortisone methyloxidase type I deficiency (OMIM <a href="https://omim.org/entry/203400" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">203400</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.104_108delTGCTG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val35AlafsTer3</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/19 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000498.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000498<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000489.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000489<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.mitsuuchi.1993.864" rid="founder_amish.REF.mitsuuchi.1993.864">Mitsuuchi et al [1993]</a>, <a class="bibr" href="#founder_amish.REF.nomoto.1997.382" rid="founder_amish.REF.nomoto.1997.382">Nomoto et al [1997]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYP1B1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/glc/?report=reader">Primary congenital glaucoma</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1159G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu387Lys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">71%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish (western Ontario, Canada)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000104.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000104<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000095.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000095<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.martin.2000.422" rid="founder_amish.REF.martin.2000.422">Martin et al [2000]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1064_1076delGAGTGCAGGCAGA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg355HisfsTer69</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">29%</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYP21A2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cah/?report=reader">21-hydroxylase-deficient congenital adrenal hyperplasia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.518T>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile173Asn</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000500.9" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000500<wbr style="display:inline-block"></wbr>​.9</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000491.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000491<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.donohoue.1995.163" rid="founder_amish.REF.donohoue.1995.163">Donohoue et al [1995]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CYP24A1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Infantile hypercalcemia (OMIM <a href="https://omim.org/entry/143880" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">143880</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.428_430delAAG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu143del</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/16 to 1/18</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000782.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000782<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000773.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000773<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DNAAF5</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pcd/?report=reader">Primary ciliary dyskinesia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2384T>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu795Pro</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_017802.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017802<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060272.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060272<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.horani.2012.685" rid="founder_amish.REF.horani.2012.685">Horani et al [2012]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DNAH5</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.4348C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln1450Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001369.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001369<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001360.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001360<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>, <a class="bibr" href="#founder_amish.REF.ferkol.2013.383" rid="founder_amish.REF.ferkol.2013.383">Ferkol et al [2013]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">50%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish (WI)</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.10815delT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro3606HisfsTer23</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50%</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DNAI1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">c.48+2dupT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser17ValfsTer12</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (WI)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_012144.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_012144<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_036276.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_036276<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DUOXA2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Thyroid dyshormonogenesis 5 (OMIM <a href="https://omim.org/entry/274900" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">274900</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.778_779delTG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys260ProfsTer59</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20 to 1/31</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_207581.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_207581<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_997464.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_997464<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ELP2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual developmental disorder, AR 58 (OMIM <a href="https://omim.org/entry/617270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617270</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1580G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg527Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_00124875.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_00124875<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001229804.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001229804<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ERCC6</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cockayne/?report=reader">Cockayne syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2709+1G>T<br />(IVS14+1G>T)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~75%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH & Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000124.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000124<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>, <a class="bibr" href="#founder_amish.REF.xin.2013.288" rid="founder_amish.REF.xin.2013.288">Xin & Wang [2013]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>EVC</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/evc/?report=reader">Ellis-van Creveld syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1886+5G>T<br />(IVS13+5G>T)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/9</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_153717.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_153717<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>F5</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden thrombophilia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD, AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1601G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg534Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000130.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000130<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000121.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000121<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>F9</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1025C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr342Met</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Holmes Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000133.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000133<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000124.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000124<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.ketterling.1991.333" rid="founder_amish.REF.ketterling.1991.333">Ketterling et al [1991]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FGFR2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Jackson-Weiss syndrome (See <a href="/books/n/gene/craniosynostosis/?report=reader"><i>FGFR</i> Craniosynostosis Syndromes Overview</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1031C>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala344Gly</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000141.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000141<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000132.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000132<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.jabs.1994.275" rid="founder_amish.REF.jabs.1994.275">Jabs et al [1994]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>G6PC</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/gsd1/?report=reader">Glycogen storage disease type 1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1039C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln347Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/50</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000151.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000151<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000142.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000142<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.scott.2022.453" rid="founder_amish.REF.scott.2022.453">Scott et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GALT</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/galactosemia/?report=reader">Galactosemia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.563A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln188Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA, & MD)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000155.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000155<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000146.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000146<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.reichardt.1991.860" rid="founder_amish.REF.reichardt.1991.860">Reichardt et al [1991]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>GBA1</i> (<i>GBA</i>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/gaucher/?report=reader">Gaucher disease</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1226A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn409Ser</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001005741.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001005741<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001005714.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001005741<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GCDH</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/glutaric-a1/?report=reader">Glutaric acidemia type 1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1262C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala421Val</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/8 to 1/16</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000159.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000159<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000150.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000150<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GDAP1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cmt-4a/?report=reader"><i>GDAP1</i>-related hereditary motor and sensory neuropathy</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.692C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro231Leu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/7</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_018972.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018972<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061845.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061845<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.xin.2008.274" rid="founder_amish.REF.xin.2008.274">Xin et al [2008]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GJB2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/dfnb1/?report=reader"><i>GJB2</i>-related autosomal recessive nonsyndromic hearing loss</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.35delG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly12ValfsTer2</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004004.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004004<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003995.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003995<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GJC2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypomyelinating leukodystrophy (See <a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.203A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr68Cys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/58</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020435.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_020435<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_065168.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_065168<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HARS1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Usher syndrome type IIIB (OMIM <a href="https://omim.org/entry/614504" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614504</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1361A>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr454Ser</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/58</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (PA & Ontario, Canada)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002109.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002109<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002100.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002100<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.puffenberger.2012.e28936" rid="founder_amish.REF.puffenberger.2012.e28936">Puffenberger et al [2012]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HERC2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual developmental disorder, AR 38 (OMIM <a href="https://omim.org/entry/615516" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615516</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1781C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro594Leu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/79</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004667.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004667<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004658.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004658<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.harlalka.2013a.65" rid="founder_amish.REF.harlalka.2013a.65">Harlalka et al [2013a]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HSD3B2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3-beta-hydroxysteroid dehydrogenase 2 deficiency (OMIM <a href="https://omim.org/entry/201810" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">201810</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.35G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly12Glu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000198.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000198<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000189.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000189<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HUWE1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual developmental disorder, XL syndromic, Turner type (OMIM <a href="https://omim.org/entry/309590" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">309590</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.12389G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg4130Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_031407.7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_031407<wbr style="display:inline-block"></wbr>​.7</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_113584.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_113584<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HYAL2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hyal2-def/?report=reader">HYAL2 deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.443A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys148Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/38</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_033158.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033158<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_149348.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_149348<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.muggenthaler.2017.e1006470" rid="founder_amish.REF.muggenthaler.2017.e1006470">Muggenthaler et al [2017]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ITCH</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Multisystem autoimmune disease with facial dysmorphism (OMIM <a href="https://omim.org/entry/613385" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613385</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.394dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile132AsnfsTer9</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_031483.7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_031483<wbr style="display:inline-block"></wbr>​.7</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_113671.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_113671<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lohr.2010.447" rid="founder_amish.REF.lohr.2010.447">Lohr et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>KCNQ1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/jln/?report=reader">Jervell and Lange-Nielsen syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.451_452delCT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu151GlyfsTer133</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000218.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000218<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000209.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000209<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.chen.1999.1344" rid="founder_amish.REF.chen.1999.1344">Chen et al [1999]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/rws/?report=reader">Long QT syndrome, type 1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.671C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr224Met</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>KPTN</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/kptn-dis/?report=reader"><i>KPTN</i>-related disorder</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.776C>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser259Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/63</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_007059.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_007059<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_008990.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_008990<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">87.50%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/40</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.baple.2014b.87" rid="founder_amish.REF.baple.2014b.87">Baple et al [2014b]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.714_731dup18</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Met241_Gln246dup</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12.50%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/280</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LAMA1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Poretti-Boltshauser syndrome (OMIM <a href="https://omim.org/entry/615960" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615960</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.8556+1G>A<br />(IVS59+1G>A)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/61 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005559.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005559<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LMNA</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/dcm-lmna/?report=reader"><i>LMNA</i>-related dilated cardiomyopathy</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.568C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg190Trp</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_170707.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_170707<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_733821.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_733821<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LONP1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CODAS syndrome (OMIM <a href="https://omim.org/entry/600373" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600373</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2161C>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg721Gly</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/9 to 1/11</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004793.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004793<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004784.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004784<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2015.121" rid="founder_amish.REF.strauss.2015.121">Strauss et al [2015]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MCCC2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">3-methylcronyl-CoA carboxylase 2 deficiency (OMIM <a href="https://omim.org/entry/210210" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">210210</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.517dupT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser173PhefsTer25</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">1/11 to 1/12</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_022132.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_022132<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_071415.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_071415<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.baumgartner.2001.495" rid="founder_amish.REF.baumgartner.2001.495">Baumgartner et al [2001]</a>, <a class="bibr" href="#founder_amish.REF.gibson.1998.519" rid="founder_amish.REF.gibson.1998.519">Gibson et al [1998]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.295G>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu99Gln</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MFRP</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nanophthalmos, type 2 (OMIM <a href="https://omim.org/entry/609549" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">609549</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1150dupC</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.His384ProfsTer8</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/76 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_031433.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_031433<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_113621.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_113621<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.sundin.2005.9553" rid="founder_amish.REF.sundin.2005.9553">Sundin et al [2005]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MKKS</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mkks/?report=reader">McKusick-Kaufman syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.[250C>T;724G>T] <sup>6</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.[His84Tyr;Ala242Ser] <sup>6</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/7 to 1/11</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_018848.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018848<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061336.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061336<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MMACHC</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Methylmalonic aciduria and homocystinuria, cblC type (See <a href="/books/n/gene/cbl/?report=reader">Disorders of Intracellular Cobalamin Metabolism</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.271dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg91LysfsTer14</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015506.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_015506<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_056321.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_056321<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.lernerellis.2006.93" rid="founder_amish.REF.lernerellis.2006.93">Lerner-Ellis et al [2006]</a>; EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MPLKIP</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish brittle hair brain syndrome (OMIM <a href="https://omim.org/entry/234050" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">234050</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.430A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Met144Val</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/300 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (northern IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_138701.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_138701<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_619646.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_619646<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.nakabayashi.2005.510" rid="founder_amish.REF.nakabayashi.2005.510">Nakabayashi et al [2005]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MTHFR</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Homocystinuria due to MTHFR deficiency (OMIM <a href="https://omim.org/entry/236250" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">236250</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1129C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg377Cys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Somerset Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005957.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005957<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005948.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005948<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2007.165" rid="founder_amish.REF.strauss.2007.165">Strauss et al [2007]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MTPAP</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spastic ataxia, type 4 (OMIM <a href="https://omim.org/entry/613672" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613672</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1432A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn478Asp</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_018109.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018109<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060579.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060579<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.crosby.2010.655" rid="founder_amish.REF.crosby.2010.655">Crosby et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MYBPC3</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hyper-card/?report=reader">Hypertrophic cardiomyopathy, severe neonatal</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3330+2T>G<br />(IVS30+2T>G)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000256.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000256<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.xin.2007.2662" rid="founder_amish.REF.xin.2007.2662">Xin et al [2007]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MYORG</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Basal ganglia calcification type 7 (OMIM <a href="https://omim.org/entry/618137" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618137</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1967T>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile656Thr</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/16</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020702.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_020702<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_065753.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_065753<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NIN</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive high frequency hearing loss</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.4666C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glyn1556Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020921.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_020921<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_065972.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_065972<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NPHS2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nephrotic syndrome (See <a href="/books/n/gene/srns-ov/?report=reader">Genetic Steroid-Resistant Nephrotic Syndrome Overview</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.413G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg138Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/51</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_014625.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014625<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055440.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055440<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="5" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PAH</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pku/?report=reader">Phenylalanine hydroxylase deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.1066-11G>A<br />(IVS10-11G>A)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/17</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000277.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000277<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.wang.2007.1938" rid="founder_amish.REF.wang.2007.1938">Wang et al [2007]</a>; <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>; <a class="bibr" href="#founder_amish.REF.schwoerer.2018.75" rid="founder_amish.REF.schwoerer.2018.75">Schwoerer et al [2018]</a>; <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>; EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">79%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/16</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (WI)</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.782G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg261Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/34</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000277.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000277<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000268.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000268<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.284_286delTCA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile95del</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">1/31</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1199+17G>A<br />(IVS11+17G>A)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000277.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000277<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PANK2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pkan/?report=reader">Pantothenate kinase-associated neurodegeneration</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.930_936delCTTTTGT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe311ProfsTer16</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_153638.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_153638<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_705902.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_705902<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.zhou.2001.345" rid="founder_amish.REF.zhou.2001.345">Zhou et al [2001]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PCCB</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/propionic-a/?report=reader">Propionic acidemia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1606A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn536Asp</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/22 <sup>5</sup> to 1/32</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster, Juniata, & Mifflin Co, PA, & WI)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000532.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000532<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000523.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000523<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>, <a class="bibr" href="#founder_amish.REF.kuhl.2017.352" rid="founder_amish.REF.kuhl.2017.352">Kuhl et al [2017]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PCNA</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ataxia-telangiectasia-like disorder 2 (OMIM <a href="https://omim.org/entry/615919" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615919</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.683G>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser228Ile</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/78</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002592.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002592<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002583.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002583<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.baple.2014a.3137" rid="founder_amish.REF.baple.2014a.3137">Baple et al [2014a]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PEPD</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/prolidase-def/?report=reader">Prolidase deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.793C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg265Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000285.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000285<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000276.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000276<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.wang.2006.580" rid="founder_amish.REF.wang.2006.580">Wang et al [2006]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PKLR</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pyruvate kinase deficiency of red cells (OMIM <a href="https://omim.org/entry/266200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">266200</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1436G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg479His</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/151 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Mifflin Co, PA, & Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000298.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000298<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000289.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000289<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.kanno.1994.2311" rid="founder_amish.REF.kanno.1994.2311">Kanno et al [1994]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RAG1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe combined immunodeficiency (OMIM <a href="https://omim.org/entry/601457" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601457</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2974A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys992Glu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/34</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000448.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000448<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000439.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000439<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RMRP</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/chh/?report=reader">Cartilage-hair hypoplasia</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.71A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10 to 1/19</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish (Holmes & Geauga Co, OH, & Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NG_017041.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_017041<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.mckusick.1965.285" rid="founder_amish.REF.mckusick.1965.285">McKusick et al [1965]</a>, <a class="bibr" href="#founder_amish.REF.ridanp__.2003.81" rid="founder_amish.REF.ridanp__.2003.81">Ridanpää et al [2003]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RNU4ATAC</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microcephalic osteodysplastic primordial dwarfism type 1 (See <a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.51G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/18</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NR_023343.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NR_023343<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.he.2011.238" rid="founder_amish.REF.he.2011.238">He et al [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SAMHD1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cerebral vasculopathy and early onset stroke (See <a href="/books/n/gene/ags/?report=reader">Aicardi-Goutierès Syndrome</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1411-2A>G<br />(IVS12-2A>G)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/34</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015474.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_015474<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.xin.2011.5372" rid="founder_amish.REF.xin.2011.5372">Xin et al [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SERPINE1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pai-1-def/?report=reader">Complete plasminogen activator inhibitor 1 deficiency</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.699_700dupTA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr234IlefsTer45</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/4 to 1/6</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (eastern & southern IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000602.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000602<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000593.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000593<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.fay.1992.1729" rid="founder_amish.REF.fay.1992.1729">Fay et al [1992]</a>, <a class="bibr" href="#founder_amish.REF.khan.2017" rid="founder_amish.REF.khan.2017">Khan et al [2017]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/61</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SGCB</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Limb girdle muscular AR type 4 (OMIM <a href="https://omim.org/entry/604286" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604286</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.452C>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr151Arg</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">96%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (southern IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000232.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000232<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000223.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000223<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.duclos.1998.30" rid="founder_amish.REF.duclos.1998.30">Duclos et al [1998]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC12A3</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gitelman syndrome (OMIM <a href="https://omim.org/entry/263800" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">263800</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1924C>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.Arg642Gly</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/51 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster, Juniata, & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000339.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000339<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000330.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000330<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC25A19</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/amish-mcph/?report=reader">Amish lethal microcephaly</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.530G>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly177Ala</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/14 to 1/22</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_021734.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_021734<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_068380.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_068380<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC5A1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Glucose/galactose malabsorption (OMIM <a href="https://omim.org/entry/606824" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606824</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.[152A>G;1231G>A;1673G>A;1845C>G] <sup>6, 7</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.[Asn51Ser;Ala411Thr;Arg558His;His615Gln] <sup>6, 7</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000343.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000343<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000334.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000334<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.xin.2011.86" rid="founder_amish.REF.xin.2011.86">Xin & Wang [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC6A3</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/slc6a3-dtds/?report=reader"><i>SLC6A3</i>-related dopamine transporter deficiency syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1408_1409delTAinsAG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr470Ser</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/61 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001044.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001044<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001035.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001035<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">EG Puffenberger, unpublished data</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLITRK6</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/dfn-myop/?report=reader">Deafness and myopia syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.1240C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln414Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/80</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_032229.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032229<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_115605.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_115605<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.tekin.2013.2094" rid="founder_amish.REF.tekin.2013.2094">Tekin et al [2013]</a>, <a class="bibr" href="#founder_amish.REF.morlet.2014.e95" rid="founder_amish.REF.morlet.2014.e95">Morlet et al [2014]</a>, <a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/17 to 1/21</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SNIP1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures(OMIM <a href="https://omim.org/entry/614501" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614501</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1097A>G</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu366Gly</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/34</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024700.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024700<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_078976.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_078976<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2012.e28936" rid="founder_amish.REF.puffenberger.2012.e28936">Puffenberger et al [2012]</a>, <a class="bibr" href="#founder_amish.REF.ammous.2021.e1009803" rid="founder_amish.REF.ammous.2021.e1009803">Ammous et al [2021]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SORD</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal hereditary motor neuropathy (See <a href="/books/n/gene/cmt/?report=reader">Charcot-Marie Tooth Hereditary Neuropathy Overview</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.757delG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala253GlnfsTer27</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster, Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_003104.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003104<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003095.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003095<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SPART</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/spg20/?report=reader">Troyer syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1110delA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys370AsnfsTer30</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/13</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015087.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_015087<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055902.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055902<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.patel.2002.347" rid="founder_amish.REF.patel.2002.347">Patel et al [2002]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SPG21</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mast syndrome (OMIM <a href="https://omim.org/entry/248900" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">248900</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.601dupA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr201AsnfsTer13</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/64</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Holmes Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_016630.7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_016630<wbr style="display:inline-block"></wbr>​.7</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_057714.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_057714<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.simpson.2003.1147" rid="founder_amish.REF.simpson.2003.1147">Simpson et al [2003]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ST3GAL5</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Salt and pepper developmental regression syndrome (<a href="/books/n/gene/gm3-def/?report=reader">GM3 synthase deficiency</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.862C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg288Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH, & Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_003896.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003896<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003887.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003887<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.simpson.2004.1225" rid="founder_amish.REF.simpson.2004.1225">Simpson et al [2004]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>, <a class="bibr" href="#founder_amish.REF.wang.2013.875" rid="founder_amish.REF.wang.2013.875">Wang et al [2013]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SUGCT</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Glutaric acidemia type 3 (OMIM <a href="https://omim.org/entry/231690" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">231690</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.874C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg292Trp<br />(Arg299Trp)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/6 to 1/9</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster, Juniata, & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024728.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024728<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_079004.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_079004<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.sherman.2008.604" rid="founder_amish.REF.sherman.2008.604">Sherman et al [2008]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>, <a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SYNE1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spinocerebellar ataxia, AR type 8 (See <a href="/books/n/gene/syne1ca-ar/?report=reader"><i>SYNE1</i> Deficiency</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.17692C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln5898Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/31 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_033071.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033071<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_149062.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_149062<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.crowgey.2019.687" rid="founder_amish.REF.crowgey.2019.687">Crowgey et al [2019]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>THAP1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Torsion dystonia, type 6 (OMIM <a href="https://omim.org/entry/602629" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602629</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.135_139delTAAACinsGGGTTTA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe45LeufsTer29</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥93%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_018105.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018105<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060575.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060575<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.fuchs.2009.286" rid="founder_amish.REF.fuchs.2009.286">Fuchs et al [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TJP2</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial hypercholanemia (OMIM <a href="https://omim.org/entry/607748" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607748</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.143T>C</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val48Ala</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/7</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004817.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004817<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004808.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004808<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TMCO1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome (OMIM <a href="https://omim.org/entry/213980" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">213980</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.139_140delAG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser47Ter<br />(Ser98Ter)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/143</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (northeastern OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019026.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_019026<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061899.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061899<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.xin.2010.258" rid="founder_amish.REF.xin.2010.258">Xin et al [2010]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/25</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TMPRSS4</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autosomal recessive cerebral atrophy</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.995C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr332Met</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/8</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Old Order Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019894.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_019894<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_063947.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_063947<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.lahiry.2013.126" rid="founder_amish.REF.lahiry.2013.126">Lahiry et al [2013]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TNNT1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe infantile nemaline myopathy, AR type 5A (OMIM <a href="https://omim.org/entry/605355" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605355</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.538G>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu180Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/16 to 1/19</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_003283.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003283<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003274.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003274<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2021.3322" rid="founder_amish.REF.puffenberger.2021.3322">Puffenberger [2021]</a>, <a class="bibr" href="#founder_amish.REF.lynch.2022.2119" rid="founder_amish.REF.lynch.2022.2119">Lynch et al [2022]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TPO</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Thyroid dyshormonogenesis, type 2A (OMIM <a href="https://omim.org/entry/274500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">274500</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2395G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu799Lys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">89%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000547.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000547<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000538.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000538<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.pannain.1999.1061" rid="founder_amish.REF.pannain.1999.1061">Pannain et al [1999]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1943G>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg648Gln</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11%</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TSPYL1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sudden infant death with dysgenesis of the testes syndrome (OMIM <a href="https://omim.org/entry/608800" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608800</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.457dupG</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu153GlyfsTer17</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/302 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Juniata & Mifflin Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_003309.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003309<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003300.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003300<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.puffenberger.2004.11689" rid="founder_amish.REF.puffenberger.2004.11689">Puffenberger et al [2004]</a>, <a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a></td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TYR</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculocutaneous albinism type 1B (See <a href="/books/n/gene/oca-oa-ov/?report=reader">Oculocutaneous Albinism and Ocular Albinism Overview</a>.)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1217C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro406Leu</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000372.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000372<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000363.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000363<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.tripathi.1992.865" rid="founder_amish.REF.tripathi.1992.865">Tripathi et al [1992]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>UGT1A1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Crigler-Najjar syndrome, type 1 (OMIM <a href="https://omim.org/entry/218800" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">218800</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.222C>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr74Ter</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/61 <sup>5</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Lancaster Co, PA)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000463.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000463<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000454.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000454<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.strauss.2009.513" rid="founder_amish.REF.strauss.2009.513">Strauss & Puffenberger [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>VPS13B</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/cohen/?report=reader">Cohen syndrome</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.[8459T>C;9260dupT] <sup>6</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.[Ile2820Thr;Leu3087PhefsTer20] <sup>6</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>99%</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1/12</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (Geauga Co, OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_017890.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017890<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060360.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060360<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.falk.2004.23" rid="founder_amish.REF.falk.2004.23">Falk et al [2004]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>VWF</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/von-willebrand/?report=reader">von Willebrand disease</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.4120C>T</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1374Cys</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish (IN & OH)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000552.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000552<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000543.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000543<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.gupta.2016.e431" rid="founder_amish.REF.gupta.2016.e431">Gupta et al [2016]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>WDR73</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Galloway-Mowat syndrome, type 1 (Yoder dystonia) (OMIM <a href="https://omim.org/entry/251300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">251300</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.888delT</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe296LeufsTer26</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_032856.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032856<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_116245.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_116245<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_amish.REF.jinks.2015.2173" rid="founder_amish.REF.jinks.2015.2173">Jinks et al [2015]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>YARS1</i>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, type 2 (OMIM <a href="https://omim.org/entry/619418" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">619418</a>)</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.499C>A</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro167Thr</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>4</sup></td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amish</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_003680.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003680<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003671.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003671<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_amish.T.genetic_disorders_associ_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_amish.REF.strauss.2018.31" rid="founder_amish.REF.strauss.2018.31">Strauss et al [2018]</a>, <a class="bibr" href="#founder_amish.REF.williams.2019.525" rid="founder_amish.REF.williams.2019.525">Williams et al [2019]</a></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; Co = county/counties; del = delete/deletion; IN = Indiana; MD = Maryland; MOI = mode of inheritance; OH = Ohio; PA = Pennsylvania; WI = Wisconsin</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="founder_amish.TF.e.1"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="founder_amish.TF.e.2"><p class="no_margin">This percentage does not account for the possibility of rare <i>de novo</i> pathogenic variants occurring in this population.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="founder_amish.TF.e.3"><p class="no_margin">See also <a href="https://clinicforspecialchildren.org/what-we-do/research/diseases-mutations" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Clinic for Special Children – Diseases & Mutations</a> and <a href="https://www.biochemgenetics.ca/plainpeople/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Amish, Mennonite, and Hutterite Genetic Disorders Database</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="founder_amish.TF.e.4"><p class="no_margin">Additional pathogenic variants in this gene have not been reported to date in individuals of Amish descent (from region specified).</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="founder_amish.TF.e.5"><p class="no_margin">Carrier frequency is calculated based on detected minor allele frequency on exome sequencing of 301 controls from the Lancaster Amish population.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="founder_amish.TF.e.6"><p class="no_margin">Affected individuals have been found to be homozygous for both/all variants listed.</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="founder_amish.TF.e.7"><p class="no_margin">Variants c.152A>G, c.1231G>A, and c.1845C>G are disease-associated polymorphisms with additional supporting functional evidence suggestive of decreased function [<a class="bibr" href="#founder_amish.REF.seidelmann.2018.1763" rid="founder_amish.REF.seidelmann.2018.1763">Seidelmann et al 2018</a>].</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
|
|
|
|
|
|
|
|
|
|
<!-- Book content -->
|
|
|
|
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js"> </script>
|
|
|
|
|
|
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal104 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
|
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
|
|
|
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3968615.js" snapshot="books"></script></body>
|
|
</html>
|