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<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 Sephardic Jewish Population" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2023/01/12" /><meta name="citation_author" content="Stephanie E Wallace" /><meta name="citation_author" content="Ghayda M Mirzaa" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK588574/" /><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 Sephardic Jewish 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="Ghayda M Mirzaa" /><meta name="DC.Date" content="2023/01/12" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK588574/" /><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 Sephardic Jewish 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/NBK588574/" /><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_sephardic/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK588574/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><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" /><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><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.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><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK588574_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK588574_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/founder_romani/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/founder_yupik/" title="Next page in this title">Next ></a></div></div></div></div></div>
|
||
<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK588574_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population</span></h1><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD and <span itemprop="author">Ghayda M Mirzaa</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK588574_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK588574_ai__"><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, Department of 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">Ghayda M Mirzaa</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Seattle Children's Research Institute<br />Seattle, Washington</div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">January 12, 2023</span>.</p><p><em>Estimated reading time: 14 minutes</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> is a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> 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 <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. 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 >50% of the pathogenic variants identified in a single <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> in individuals of a specific ancestry</b> – in individuals of Sephardic Jewish ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence <a class="def" href="/books/n/gene/glossary/def-item/hot-spot/">hot spot</a> are not considered founder variants and thus are not included.</p><div id="founder_sephardic.T.genetic_disorders_as" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK588574/table/founder_sephardic.T.genetic_disorders_as/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_sephardic.T.genetic_disorders_as_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Pathogenic Variants in Gene <sup>2</sup></th><th id="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">References</th></tr></thead><tbody><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ABCC2</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Dubin Johnson syndrome<br />(OMIM <a href="https://omim.org/entry/237500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">237500</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3449G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1150His</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/57</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000392.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000392<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000383.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000383<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.morcohen.2001.36923">Mor-Cohen et al [2001]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.3517A>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile1173Phe</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/17</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ABCD1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/x-ald/">Adrenoleukodystrophy</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.686T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu229Pro</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000033.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000033<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000024.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000024<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.neumann.2001.65">Neumann et al [2001]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ADA2</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ada2-def/">Adenosine deaminase 2 deficiency</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.139G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly47Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Georgian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001282225.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001282225<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001269154.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001269154<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.hashem.2017.70">Hashem et al [2017]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ADAMTSL4</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/adamtsl4-eyes/"><i>ADAMTSL4</i>-related eye disorders</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2594G>A<br />(2663G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg865His<br />(Arg888His)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/48</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish <sup>4</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_019032.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_019032<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061905.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061905<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.reinstein.2016.38">Reinstein et al [2016]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AGL</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/gsd3/">Glycogen storage disease type III</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.4456delT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser1486ProfsTer18</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/35</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish (Israel)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000642.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000642<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000633.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000633<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.parvari.1997.266">Parvari et al [1997]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AIPL1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/lca-ov/">Leber congenital amaurosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.211G>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val71Phe</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_014336.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014336<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055151.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055151<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AIRE</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Polyglandular autoimmune syndrome type 1 (OMIM <a href="https://omim.org/entry/240300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">240300</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.254A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr85Cys</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000383.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000383<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000374.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000374<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AMN</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Imerslund-Gräsbeck syndrome type 2 (OMIM <a href="https://omim.org/entry/618882" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618882</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.208-2A>G<br />(IVS3-2A>G)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_030943.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_030943<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.beech.2011.74">Beech et al [2011]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ARSA</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mld/">Arylsulfatase A deficiency</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.1136C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro379Leu</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/6</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Habbanite Jewish (Israel)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000487.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000487<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000478.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000478<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.zlotogora.1995.137">Zlotogora et al [1995]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/46</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ASNS</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/as-def/">Asparagine synthetase deficiency</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1084T>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe362Val</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/80</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_133436.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_133436<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_597680.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_597680<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.radha_rama_devi.2019.97">Radha Rama Devi & Naushad [2019]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ataxia-telangiectas/">Ataxia-telangiectasia</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.103C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg35Ter</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">97%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/81</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan & Tunisian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.gilad.1996.2033">Gilad et al [1996]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BCHE</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pseudocholinesterase deficiency (OMIM <a href="https://omim.org/entry/617936" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617936</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.293A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp98Gly</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/8 to 1/10</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian & Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000055.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000055<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000046.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000046<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BRCA1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/brca1/">Hereditary breast and ovarian cancer</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.68_69delAG<br />(185delAG)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu23ValfsTer17</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>5</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_007294.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_007294<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_009225.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_009225<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.barsade.1997.413">Bar-Sade et al [1997]</a>, <a class="bk_pop" href="#founder_sephardic.REF.lerer.1998.272">Lerer et al [1998]</a>, <a class="bk_pop" href="#founder_sephardic.REF.sagi.2011.59">Sagi et al [2011]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.2934T>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr978Ter</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Iraqi & Iranian Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.5123C>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala1708Glu</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Sephardic Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BRCA2</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/brca1/">Hereditary breast and ovarian cancer</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.67+1G>A<br />(IVS2+1G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>5</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sephardic Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.8537_8538delAG<br />(8765delAG)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu2846GlyfsTer22</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>C7</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">C7 deficiency (OMIM <a href="https://omim.org/entry/610102" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610102</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1135G>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly357Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/91</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000587.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000587<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000578.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000578<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.halle.2001.325">Halle et al [2001]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CD59</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hemolytic anemia (OMIM <a href="https://omim.org/entry/612300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612300</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.266G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys89Tyr</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/66</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_203330.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_203330<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_976075.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_976075<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.nevo.2013.129">Nevo et al [2013]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CERKL</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rp-overview/">Retinitis pigmentosa</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.238+1G>A<br />(IVS1+1G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/23</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001030311.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001030311<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.auslender.2007.5431">Auslender et al [2007]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CFTR</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cf/">Cystic fibrosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1075_1079delCAAACinsAAAAA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln359_Thr360delinsLysLys</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">70%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Georgian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.meizahav.2018.e41">Mei-Zahav et al [2018]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ctns/">Cystinosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1015G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly339Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">83%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CTSC</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Haim-Munk syndrome (OMIM <a href="https://omim.org/entry/245010" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">245010</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.857A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln286Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cochin Jewish <sup>6</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001814.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001814<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001805.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001805<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.hart.2000.88">Hart et al [2000]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CYBA</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cgd/">Chronic granulomatous disease</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.171dupG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys58GlufsTer155</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000101.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000101<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000092.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000092<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>, <a class="bk_pop" href="#founder_sephardic.REF.wolach.2017.28">Wolach et al [2017]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adrenal hyperplasia, 11-beta-hydroxylase deficiency<br />(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_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1343G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg448His</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">92%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish (Atlas Mountains)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.white.1991.1664">White et al [1991]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital hypoaldosteronism type 2 (OMIM <a href="https://omim.org/entry/610600" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610600</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.[541C>T;1157T>C] <sup>7</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.[Arg181Trp;Val386Ala] <sup>7</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/25 to 1/30</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.leshinskysilver.2006.73">Leshinsky-Silver et al [2006]</a>, <a class="bk_pop" href="#founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CYP27A1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ctx/">Cerebrotendinous xanthomatosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.819delT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp273GlufsTer13</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/228</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000784.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000784<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000775.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000775<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.leitersdorf.1993.2488">Leitersdorf et al [1993]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.845-1G>A<br />(IVS4-1G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/114</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_9" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000784.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000784<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DSG4</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">Monilethrix-like hypotrichosis (OMIM <a href="https://omim.org/entry/607903" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607903</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.763delT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/00</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_177986.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_177986<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zlotogorski.2006.1292">Zlotogorski et al [2006]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.216+1G>T<br />(IVS3+1G>T)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.800C>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro267Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/25</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_177986.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_177986<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_817123.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_817123<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.865C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg289Ter</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DYSF</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Limb-girdle muscular dystrophy 2B (See <a href="/books/n/gene/miyoshi/">Dysferlinopathy</a>.)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2779delG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala927LeufsTer21</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/50</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Caucasian Jewish (Dagestan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_003494.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003494<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003485.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003485<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.leshinskysilver.2007.950">Leshinsky-Silver et al [2007]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.4872delG<br />(1624delG)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu1624AspfsTer10</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Libyan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.argov.2000.1229">Argov et al [2000]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ERCC2</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/xp/">Xeroderma pigmentosum</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2047C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg683Trp</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000400.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000400<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000391.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000391<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.falikzaccai.2012.505">Falik-Zaccai et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>EYS</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rp-overview/">Retinitis pigmentosa</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.[403delA;406G>T;410_424del15] <sup>8</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr135LeufsTer25</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~85%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/94</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001142500.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001142800<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001136272.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001136272<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.bandahrozenfeld.2010a.4387">Bandah-Rozenfeld et al [2010a]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>F7</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Factor VII deficiency (OMIM <a href="https://omim.org/entry/227500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">227500</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.911C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala304Val<br />(Ala244Val)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/22 to 1/42</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000131.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000131<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000122.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000122<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.tamary.1996.283">Tamary et al [1996]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/21</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>F11</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Factor XI deficiency (OMIM <a href="https://omim.org/entry/612416" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612416</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.403G>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu135Ter<br />(Glu117Ter)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000128.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000128<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000119.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000119<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.peretz.1997.2654">Peretz et al [1997]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FAM161A</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rp-overview/">Retinitis pigmentosa</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1355_1356delCA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr452SerfsTer3</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">90%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/32</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001201543.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001201543<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001188472.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001188472<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.bandahrozenfeld.2010b.382">Bandah-Rozenfeld et al [2010b]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FANCA</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fa/">Fanconi anemia</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.891_893+1delCTGG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000135.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000135<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.tamary.2000.338">Tamary et al [2000]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.2172dupG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser725ValfsTer69</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">77%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000135.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000135<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000126.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000126<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.4275delT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp1427ThrfsTer6</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">23%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FH</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hlrcc/"><i>FH</i> tumor predisposition syndrome</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.905-1G>A<br />(IVS6-1G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000143.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000143<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.chuang.2005.410">Chuang et al [2005]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>G6PD</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Glucose-6-phosphate dehydrogenase deficiency (OMIM <a href="https://omim.org/entry/300908" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300908</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.563C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser188Phe</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Kurdish Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001042351.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001042351<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001035810.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001035810<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.oppenheim.1993.293">Oppenheim et al [1993]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">75%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish (Shiraz, Iran)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.karimi.2008.212">Karimi et al [2008]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GARS1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal spinal muscular atrophy (See <a href="/books/n/gene/cmt2d/"><i>GARS1</i>-Associated Axonal Neuropathy</a>.)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1738G>C<br />(c.2094G>C)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly580Arg<br />(Gly526Arg)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Algerian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_002047.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002047<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002038.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002038<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.dubourg.2006.1721">Dubourg et al [2006]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GNE</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ibm/">Inclusion body myopathy</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.2228T>C<br />(2186T>C)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Met743Thr<br />(Met712Thr)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/11 to 1/15</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001128227.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001128227<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001121699.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001121699<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/47</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Syrian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zeevi.2021.e1756">Zeevi et al [2021]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GNPTG</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ml3c/">Mucolipidosis III gamma</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.499dupC</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu167ProfsTer32</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_032520.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032520<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_115909.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_115909<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.raasrothschild.2004.e52">Raas-Rothschild et al [2004]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GUCY2D</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/lca-ov/">Leber congenital amaurosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.389delC</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro130LeufsTer36</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>5</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000180.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000180<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000171.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000171<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.perrault.1996.461">Perrault et al [1996]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HEXA</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/tay-sachs/">Tay-Sachs disease</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.915_917delCTT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe305del</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">40%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">1/60 to 1/110</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000520.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000520<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000511.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000511<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.drucker.1992.371">Drucker et al [1992]</a>, <a class="bk_pop" href="#founder_sephardic.REF.kaufman.1997.295">Kaufman et al [1997]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.509G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg170Gln</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">35%</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.571-2A>G<br />(IVS5-2A>G)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_9" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000520.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000520<wbr style="display:inline-block"></wbr>.6</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ITGB3</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Glanzmann thrombasthenia type 2 (OMIM <a href="https://omim.org/entry/619267" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">619267</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2031_2041del11</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp677GlufsTer4</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000212.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000212<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000203.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000203<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.newman.1991.3160">Newman et al [1991]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LIPA</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/lal-def/">Lysosomal acid lipase deficiency</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.260G>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly87Val<br />(Gly66Val)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">98%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/32</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish <sup>9</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_0011287605.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001127605<wbr style="display:inline-block"></wbr>.1</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001121077.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001121077<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.vallesayoub.2011.395">Valles-Ayoub et al [2011]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LMAN1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Combined factor V and VIII deficiency (OMIM <a href="https://omim.org/entry/227300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">227300</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1149+2T>C<br />(IVS9+2T>C)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/47</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish (Djerba Island)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_005570.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005570<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.segal.2004.99">Segal et al [2004]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.89dupG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp31ArgfsTer72</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/160 <sup>10</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Middle Eastern Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_005570.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005570<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005561.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005561<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.nichols.1998.61">Nichols et al [1998]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MED17</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Postnatal progressive microcephaly with seizures and brain atrophy (OMIM <a href="https://omim.org/entry/613668" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613668</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1112T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu371Pro</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Caucasian Jewish (Dagestan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_004268.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004268<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004259.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004259<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.kaufmann.2010.667">Kaufmann et al [2010]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MEFV</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fmf/">Familial Mediterranean fever</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.2080A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Met694Val</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">70%-90%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/5 to 1/7</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000243.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000243<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000234.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000234<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.aksentijevich.1999.949">Aksentijevich et al [1999]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">40%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">1/3 <sup>11</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi & Kurdish Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.2177T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val726Ala</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MLC1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mlc/">Megalencephalic leukoencephalopathy with subcortical cysts</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.176G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly59Glu</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/40</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Libyan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_015166.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_015166<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055981.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055981<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.benzeev.2002.214">Ben-Zeev et al [2002]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Methyltetrahydrofolate reductase 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_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.474A>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 12.</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>5</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/39</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish (Uzbekistan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.benshachar.2012.608">Ben-Shachar et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NCF1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cgd/">Chronic granulomatous disease</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.579G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Trp193Ter</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">96%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/23</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Caucasian Jewish (Dagestan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000265.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000265<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000256.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000256<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.de_boer.2015.320">de Boer et al [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NDUFS6</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mitochondrial complex I deficiency (OMIM <a href="https://omim.org/entry/618232" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618232</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.344G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys115Tyr</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Caucasian Jewish (Dagestan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_004553.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004553<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004544.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004544<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.spiegel.2009.1200">Spiegel et al [2009]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NR2E3</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rp-overview/">Retinitis pigmentosa</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.932G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg311Gln</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Crypto-Jewish (Belmonte, Portugal)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_014249.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014249<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055064.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055064<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.gerber.2000.276">Gerber et al [2000]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NTRK1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan4/">Congenital insensitivity to pain with anhidrosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.207_208delTG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu70AlafsTer16</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish (Skoura, Morocco)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_002529.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002529<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002520.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002520<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.suriu.2009.230">Suriu et al [2009]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>OPA3</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3-methylglutaconicaciduria type III (See <a href="/books/n/gene/mga3/">Costeff Syndrome</a>.)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.143-1G>C<br />(IVS1-1G>C)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20 to 1/30</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish (Israel)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_025136.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_025136<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.anikster.2001.1218">Anikster et al [2001]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PAH</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/pku/">Phenylalanine hydroxylase deficiency</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.533A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu178Gly</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">79%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan & Caucasian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_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><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.bercovich.2008.305">Bercovich et al [2008]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.842C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro281Leu</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.143T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu48Ser</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">80%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">6.7-kb del incl <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> 3 <sup>1</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/36 <sup>10</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish (San'a, Yemen)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NG_008690.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_008690<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.avigad.1990.168">Avigad et al [1990]</a>, <a class="bk_pop" href="#founder_sephardic.REF.bercovich.2008.305">Bercovich et al [2008]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PERCC1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Congenital malabsorptive diarrhea (OMIM <a href="https://omim.org/entry/251850" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">251850</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.1425365_1432378del<br />(7,013-bp del of ICR)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">85%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NC_000016.10" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NC_000016<wbr style="display:inline-block"></wbr>.10</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.ozlevi.2019.107">Oz-Levi et al [2019]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">g.1430850_1433951del<br />(3,101-bp del of ICR)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15%</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRNP</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/prion/">Genetic prion disease</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.598G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu200Lys</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Libyan Jewish & Tunisian Jewish (Djerba Island)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000311.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000311<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000302.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000302<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PUS1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mitochondrial myopathy and sideroblastic anemia (OMIM <a href="https://omim.org/entry/600462" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600462</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.430C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg144Trp</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_025215.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_025215<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_079491.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_079491<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PYGM</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/gsd5/">Glycogen storage disease type V</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.632delG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser211ThrfsTer84</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Caucasian Jewish (Dagestan)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_005609.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005609<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005600.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005600<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.haimi_cohen.2012.379">Haimi Cohen et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RAPSN</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cms/">Congenital myasthenic syndrome</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.-210A>G<br />(-38A>G)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi, Iranian, & Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_005055.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005055<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.ohno.2003.739">Ohno et al [2003]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPE65</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/lca-ov/">Leber congenital amaurosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.95-2A>T<br />(IVS2-2A>T)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/90</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_000329.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000329<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.banin.2010.1749">Banin et al [2010]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SAMD9</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Familial tumoral calcinosis (OMIM <a href="https://omim.org/entry/610455" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610455</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.4483A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys1495Glu</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~17%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/154</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_017654.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017654<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060124.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060124<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.chefetz.2008.1423">Chefetz et al [2008]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1030C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg344Ter</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~83%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/31</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SEC23B</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital dyserthropoietic anemia type II (OMIM <a href="https://omim.org/entry/224100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">224100</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.325G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu109Lys</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/102</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_006363.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_006363<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_006354.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_006354<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.amir.2011.202">Amir et al [2011]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SEPSECS</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Pontocerebellar hypoplasia type 2D (OMIM <a href="https://omim.org/entry/613811" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613811</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.1001A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr334Cys</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/42</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_016955.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_016955<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_058651.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_058651<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.agamy.2010.538">Agamy et al [2010]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/44</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SLC7A9</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cystinuria (OMIM <a href="https://omim.org/entry/220100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">220100</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.508G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val170Met</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">94%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Libyan Jewish (Israel)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_014270.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014270<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055085.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055085<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.colombo.2000.131">Colombo [2000]</a>, <a class="bk_pop" href="#founder_sephardic.REF.lotan.2007.513">Lotan et al [2007]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SYNE4</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/deafness-overview/">Hereditary hearing loss and deafness</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.228_229delAT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Trp77ValfsTer16</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/39</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001039876.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001039876<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001034965.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001034965<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.horn.2013.740">Horn et al [2013]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TECPR2</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/tecpr2-hsan-id/">Hereditary spastic paraparesis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3416delT</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu1139ArgfsTer75</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/27</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_014844.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014844<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055659.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055659<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.ozlevi.2012.1065">Oz-Levi et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TMC1</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/deafness-overview/">Hereditary hearing loss and deafness</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1939T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser647Pro</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/18</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_138691.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_138691<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_619636.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_619636<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.brownstein.2011.r89">Brownstein et al [2011]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TRMU</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Acute infantile liver failure (See <a href="/books/n/gene/trmu-def/">TRMU Deficiency</a>.)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.229T>C</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr77His</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">75%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/40</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_018006.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_018006<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060476.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060476<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.zeharia.2009.401">Zeharia et al [2009]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculocutaneous albinism type IA (OMIM <a href="https://omim.org/entry/606952" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606952</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.140G>A</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly47Asp</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">75%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.gershonibaruch.1994.586">Gershoni-Baruch et al [1994]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>USH1C</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/usher1/">Usher syndrome type I</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1220delG</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly407GlufsTer58</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/119</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Yemenite Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_005709.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005709<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.khateb.2012.e51566">Khateb et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>USH2A</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/usher2/">Usher syndrome type II</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.236_239dupGTAC</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln81TyrfsTer28</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>5</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/53</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iraqi Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_206933.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_206933<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_996816.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_996816<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_sephardic.REF.auslender.2008.289">Auslender et al [2008]</a>, <a class="bk_pop" href="#founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Iranian Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1000C>T</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg334Trp</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">1/111</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">N African Jewish</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.12067-2A>G<br />(IVS61-2A>G)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_206933.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_206933<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>VPS13A</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/chac/">Chorea-acanthocytosis</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2343delA</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys781AsnfsTer8</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish (Djerba Island)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_033305.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033305<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_150648.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_150648<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.benninger.2016.549">Benninger et al [2016]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>VPS53</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Progressive cerebello-cerebral atrophy type 2 (OMIM <a href="https://omim.org/entry/615851" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615851</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2084A>G</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln695Arg</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50%</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">1/37</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Moroccan Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001128159.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001128159<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001121631.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001121631<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.feinstein.2014.303">Feinstein et al [2014]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1556+5G>A<br />(IVS14+5G>A)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50%</td></tr><tr><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ZNF469</i>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Brittle cornea syndrome (OMIM <a href="https://omim.org/entry/229200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">229200</a>)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.6027delA<br />(5943delA)</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly2011AlafsTer16</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tunisian Jewish</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_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_001354553.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001367624<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001354553.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001354553<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_sephardic.T.genetic_disorders_as_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_sephardic.REF.romdhane.2012.52">Romdhane et al [2012]</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><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><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; ICR = intestine <a class="def" href="/books/n/gene/glossary/def-item/critical-region/">critical region</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; N = North; NA = not applicable; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="founder_sephardic.TF.e.1"><p class="no_margin">Variant designation that does not conform to current naming conventions</p></div></dd><dt>2. </dt><dd><div id="founder_sephardic.TF.e.2"><p class="no_margin">This percentage does not account for the possibility of rare <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variants occurring in this population.</p></div></dd><dt>3. </dt><dd><div id="founder_sephardic.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> have not been reported in individuals of this ethnicity and/or from the specified region when indicated.</p></div></dd><dt>4. </dt><dd><div id="founder_sephardic.TF.e.4"><p class="no_margin">Individuals of Bukharan Jewish ancestry originating from Kazakhstan and Tajikistan</p></div></dd><dt>5. </dt><dd><div id="founder_sephardic.TF.e.5"><p class="no_margin">At least one additional <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> reported in this population in ≥1 family</p></div></dd><dt>6. </dt><dd><div id="founder_sephardic.TF.e.6"><p class="no_margin">Individuals of Jewish ancestry from Cochin, India, most of whom immigrated to Israel</p></div></dd><dt>7. </dt><dd><div id="founder_sephardic.TF.e.7"><p class="no_margin">The majority of affected individuals have been found to be <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> for both variants listed (as this is a common haplotype); p.Val386Ala may not be disease causing.</p></div></dd><dt>8. </dt><dd><div id="founder_sephardic.TF.e.8"><p class="no_margin">Affected individuals have been found to be <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> for all variants listed resulting in the predicted protein change.</p></div></dd><dt>9. </dt><dd><div id="founder_sephardic.TF.e.9"><p class="no_margin">Individuals of Iranian Jewish ancestry residing in Los Angeles, California</p></div></dd><dt>10. </dt><dd><div id="founder_sephardic.TF.e.10"><p class="no_margin">Calculated <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> frequency is based on the incidence of the disorder in individuals of the specified ancestry; estimated carrier frequency is not based on molecular testing of the population.</p></div></dd><dt>11. </dt><dd><div id="founder_sephardic.TF.e.11"><p class="no_margin">Carrier frequency in Iraqi Jewish individuals</p></div></dd><dt>12. </dt><dd><div id="founder_sephardic.TF.e.12"><p class="no_margin">This substitution affects the nucleotide two base pairs upstream of the donor <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> of <a class="def" href="/books/n/gene/glossary/def-item/intron/">intron</a> 3 and is known to cause abnormal <a class="def" href="/books/n/gene/glossary/def-item/splicing/">splicing</a>.</p></div></dd></dl></div></div></div><div id="founder_sephardic.References"><h2 id="_founder_sephardic_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.agamy.2010.538">Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. <span><span class="ref-journal">Am J Hum Genet. </span>2010;<span class="ref-vol">87</span>:538–44.</span> [<a href="/pmc/articles/PMC2948803/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2948803</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20920667" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20920667</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.aksentijevich.1999.949">Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. <span><span class="ref-journal">Am J Hum Genet. </span>1999;<span class="ref-vol">64</span>:949–62.</span> [<a href="/pmc/articles/PMC1377819/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1377819</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/10090880" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10090880</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.amir.2011.202">Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H. E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. <span><span class="ref-journal">Acta Haematol. </span>2011;<span class="ref-vol">125</span>:202–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21252497" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21252497</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.anikster.2001.1218">Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. <span><span class="ref-journal">Am J Hum Genet. </span>2001;<span class="ref-vol">69</span>:1218–24.</span> [<a href="/pmc/articles/PMC1235533/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1235533</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/11668429" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11668429</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.argov.2000.1229">Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. <span><span class="ref-journal">Brain. </span>2000;<span class="ref-vol">123</span>:1229–37.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10825360" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10825360</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.auslender.2008.289">Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. <span><span class="ref-journal">Genet Test. </span>2008;<span class="ref-vol">12</span>:289–94.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18452394" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18452394</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.auslender.2007.5431">Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. 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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. <span><span class="ref-journal">Mol Genet Genomic Med. </span>2021;<span class="ref-vol">9</span>:e1756. </span> [<a href="/pmc/articles/PMC8404236/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8404236</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34288589" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34288589</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.zeharia.2009.401">Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Acute infantile liver failure due to mutations in the TRMU gene. <span><span class="ref-journal">Am J Hum Genet. </span>2009;<span class="ref-vol">85</span>:401–7.</span> [<a href="/pmc/articles/PMC2771591/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2771591</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19732863" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19732863</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.zlotogora.2015">Zlotogora J (2015) Mendelian Disorders Among Jews [Internet]. Israel: Department of Community Genetics Public Health Services Ministry of Health Israel. Available <a href="https://www.health.gov.il/Subjects/Genetics/Documents/book_jews.pdf" ref="pagearea=cite-ref&targetsite=external&targetcat=link&targettype=uri">online</a>. Accessed 6-20-22.</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.zlotogora.1995.137">Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. <span><span class="ref-journal">Hum Mutat. </span>1995;<span class="ref-vol">5</span>:137–43.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7749412" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7749412</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_sephardic.REF.zlotogorski.2006.1292">Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. <span><span class="ref-journal">J Invest Dermatol. </span>2006;<span class="ref-vol">126</span>:1292–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16575393" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16575393</span></a>]</div></li></ul></div><div id="founder_sephardic.Revision_History"><h2 id="_founder_sephardic_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>12 January 2023 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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