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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2023/01/12">
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<meta name="citation_author" content="Stephanie E Wallace">
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<meta name="citation_author" content="Ghayda M Mirzaa">
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id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_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="contribs">Wallace SE, Mirzaa GM.</p><p class="fm-aai"><a href="#_NBK588574_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 14 minutes</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.</p><p>The table below includes common founder variants – here defined as <b>three or fewer variants that account for >50% of the pathogenic variants identified in a single gene 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 hot spot are not considered founder variants and thus are not included.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figfoundersephardicTgeneticdisordersas"><a href="/books/NBK588574/table/founder_sephardic.T.genetic_disorders_as/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfoundersephardicTgeneticdisordersas"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="founder_sephardic.T.genetic_disorders_as"><a href="/books/NBK588574/table/founder_sephardic.T.genetic_disorders_as/?report=objectonly" target="object" rid-ob="figobfoundersephardicTgeneticdisordersas">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population </p></div></div><div id="founder_sephardic.References"><h2 id="_founder_sephardic_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.auslender.2007.5431">Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2007;<span class="ref-vol">48</span>:5431–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18055789" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18055789</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.avigad.1990.168">Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y. A single origin of phenylketonuria in Yemenite Jews. <span><span class="ref-journal">Nature. </span>1990;<span class="ref-vol">344</span>:168–70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/1968617" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1968617</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.bandahrozenfeld.2010a.4387">Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2010a;<span class="ref-vol">51</span>:4387–94.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20375346" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20375346</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.bandahrozenfeld.2010b.382">Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. <span><span class="ref-journal">Am J Hum Genet. </span>2010b;<span class="ref-vol">87</span>:382–91.</span> [<a href="/pmc/articles/PMC2933343/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2933343</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20705279" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20705279</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.banin.2010.1749">Banin E, Bandah-Rozenfeld D, Obolensky A, Cideciyan AV, Aleman TS, Marks-Ohana D, Sela M, Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Hemo I, Sharon D. Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. <span><span class="ref-journal">Hum Gene Ther. </span>2010;<span class="ref-vol">21</span>:1749–57.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20604683" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20604683</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.barsade.1997.413">Bar-Sade RB, Theodor L, Gak E, Kruglikova A, Hirsch-Yechezkel G, Modan B, Kuperstein G, Seligsohn U, Rechavi G, Friedman E. Could the 185delAG BRCA1 mutation be an ancient Jewish mutation? <span><span class="ref-journal">Eur J Hum Genet. </span>1997;<span class="ref-vol">5</span>:413–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9450187" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9450187</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.beech.2011.74">Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. <span><span class="ref-journal">Orphanet J Rare Dis. </span>2011;<span class="ref-vol">6</span>:74.</span> [<a href="/pmc/articles/PMC3226546/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3226546</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22078000" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22078000</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.benshachar.2012.608">Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A. A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews. <span><span class="ref-journal">Mol Genet Metab. </span>2012;<span class="ref-vol">107</span>:608–10.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22947400" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22947400</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.benninger.2016.549">Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. <span><span class="ref-journal">Epilepsia. </span>2016;<span class="ref-vol">57</span>:549–56.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26813249" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26813249</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.benzeev.2002.214">Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. <span><span class="ref-journal">Hum Genet. </span>2002;<span class="ref-vol">111</span>:214–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12189496" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12189496</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.bercovich.2008.305">Bercovich D, Elimelech A, Yardeni T, Korem S, Zlotogora J, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. <span><span class="ref-journal">Ann Hum Genet. </span>2008;<span class="ref-vol">72</span>:305–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18294361" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18294361</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.brownstein.2011.r89">Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. <span><span class="ref-journal">Genome Biol. </span>2011;<span class="ref-vol">12</span>:R89.</span> [<a href="/pmc/articles/PMC3308052/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3308052</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21917145" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21917145</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.chefetz.2008.1423">Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. <span><span class="ref-journal">J Invest Dermatol. </span>2008;<span class="ref-vol">128</span>:1423–9.</span> [<a href="/pmc/articles/PMC3169318/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3169318</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18094730" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18094730</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.chuang.2005.410">Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, Landau M, Sprecher E, Garcia Muret MP, Christiano AM, Zlotogorski A. Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. <span><span class="ref-journal">J Am Acad Dermatol. </span>2005;<span class="ref-vol">52</span>:410–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15761418" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15761418</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.colombo.2000.131">Colombo R. Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene. <span><span class="ref-journal">Genomics. </span>2000;<span class="ref-vol">69</span>:131–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11013083" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11013083</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.de_boer.2015.320">de Boer M, Tzur S, van Leeuwen K, Dencher PC, Skorecki K, Wolach B, Gavrieli R, Nasidze I, Stoneking M, Tanck MW, Roos D. A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews. <span><span class="ref-journal">Blood Cells Mol Dis. </span>2015;<span class="ref-vol">55</span>:320–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26460255" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26460255</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.drucker.1992.371">Drucker L, Proia RL, Navon R. Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. <span><span class="ref-journal">Am J Hum Genet. </span>1992;<span class="ref-vol">51</span>:371–7.</span> [<a href="/pmc/articles/PMC1682680/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1682680</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/1322637" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1322637</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.dubourg.2006.1721">Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. <span><span class="ref-journal">Neurology. </span>2006;<span class="ref-vol">66</span>:1721–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16769947" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16769947</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.falikzaccai.2012.505">Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. <span><span class="ref-journal">Environ Mol Mutagen. </span>2012;<span class="ref-vol">53</span>:505–14.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22826098" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22826098</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.feinstein.2014.303">Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). <span><span class="ref-journal">J Med Genet. </span>2014;<span class="ref-vol">51</span>:303–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24577744" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24577744</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.gerber.2000.276">Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. <span><span class="ref-journal">Hum Genet. </span>2000;<span class="ref-vol">107</span>:276–84.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11071390" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11071390</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.gershonibaruch.1994.586">Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. <span><span class="ref-journal">Am J Hum Genet. </span>1994;<span class="ref-vol">54</span>:586–94.</span> [<a href="/pmc/articles/PMC1918101/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1918101</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/8128955" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8128955</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.gilad.1996.2033">Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y. Ataxia-telangiectasia: founder effect among north African Jews. <span><span class="ref-journal">Hum Mol Genet. </span>1996;<span class="ref-vol">5</span>:2033–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8968760" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8968760</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.haimi_cohen.2012.379">Haimi Cohen Y, Shalva N, Markus-Eidlitz T, Sadeh M, Dabby R, Weintraub Y, Pode-Shakked B, Zeharia A, Anikster Y. McArdle disease: a novel mutation in Jewish families from the Caucasus region. <span><span class="ref-journal">Mol Genet Metab. </span>2012;<span class="ref-vol">106</span>:379–81.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22608882" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22608882</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.halle.2001.325">Halle D, Elstein D, Geudalia D, Sasson A, Shinar E, Schlesinger M, Zimran A. High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry. <span><span class="ref-journal">Am J Med Genet. </span>2001;<span class="ref-vol">99</span>:325–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11252001" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11252001</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.hart.2000.88">Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. <span><span class="ref-journal">J Med Genet. </span>2000;<span class="ref-vol">37</span>:88–94.</span> [<a href="/pmc/articles/PMC1734521/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1734521</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/10662807" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10662807</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.hashem.2017.70">Hashem H, Kelly SJ, Ganson NJ, Hershfield MS. Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatologic disorders. <span><span class="ref-journal">Curr Rheumatol Rep. </span>2017;<span class="ref-vol">19</span>:70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28983775" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28983775</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.horn.2013.740">Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB. The LINC complex is essential for hearing. <span><span class="ref-journal">J Clin Invest. </span>2013;<span class="ref-vol">123</span>:740–50.</span> [<a href="/pmc/articles/PMC3561815/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3561815</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23348741" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23348741</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.kaback.2010.628">Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL. Genetic screening in the Persian Jewish community: a pilot study. <span><span class="ref-journal">Genet Med. </span>2010;<span class="ref-vol">12</span>:628–33.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20733503" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20733503</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.karimi.2008.212">Karimi M, Yavarian M, Afrasiabi A, Dehbozorgian J, Rachmilewitz E. Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews. <span><span class="ref-journal">Arch Med Res. </span>2008;<span class="ref-vol">39</span>:212–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18164966" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18164966</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.kaufman.1997.295">Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R. Tay-Sachs disease and HEXA mutations among Moroccan Jews. <span><span class="ref-journal">Hum Mutat. </span>1997;<span class="ref-vol">10</span>:295–300.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9338583" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9338583</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.kaufmann.2010.667">Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. <span><span class="ref-journal">Am J Hum Genet. </span>2010;<span class="ref-vol">87</span>:667–70.</span> [<a href="/pmc/articles/PMC2978946/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2978946</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20950787" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20950787</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.khateb.2012.e51566">Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. <span><span class="ref-journal">PLoS One. </span>2012;<span class="ref-vol">7</span>:e51566. </span> [<a href="/pmc/articles/PMC3520954/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3520954</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23251578" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23251578</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.leitersdorf.1993.2488">Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. <span><span class="ref-journal">J Clin Invest. </span>1993;<span class="ref-vol">91</span>:2488–96.</span> [<a href="/pmc/articles/PMC443309/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC443309</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/8514861" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8514861</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.lerer.1998.272">Lerer I, Wang T, Peretz T, Sagi M, Kaduri L, Orr-Urtreger A, Stadler J, Gutman H, Abeliovich D. The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. <span><span class="ref-journal">Am J Hum Genet. </span>1998;<span class="ref-vol">63</span>:272–4.</span> [<a href="/pmc/articles/PMC1377245/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1377245</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/9634522" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9634522</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.leshinskysilver.2007.950">Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M. Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. <span><span class="ref-journal">Neuromuscul Disord. </span>2007;<span class="ref-vol">17</span>:950–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17825554" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17825554</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.leshinskysilver.2006.73">Leshinsky-Silver E, Landau Z, Unlubay S, Bistrizer T, Zung A, Tenenbaum-Rakover Y, Devries L, Lev D, Hanukoglu A. Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. <span><span class="ref-journal">Horm Res. </span>2006;<span class="ref-vol">66</span>:73–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16733366" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16733366</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.lotan.2007.513">Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E. A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping. <span><span class="ref-journal">Isr Med Assoc J. </span>2007;<span class="ref-vol">9</span>:513–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17710781" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17710781</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.meizahav.2018.e41">Mei-Zahav M, Stafler P, Senderowitz H, Bentur L, Livnat G, Shteinberg M, Orenstein N, Bazak L, Prais D, Levine H, Gur M, Khazanov N, Simhaev L, Eliyahu H, Cohen M, Wilschanski M, Blau H, Mussaffi H. The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews. <span><span class="ref-journal">J Cyst Fibros. </span>2018;<span class="ref-vol">17</span>:e41–e45.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30033373" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30033373</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.morcohen.2001.36923">Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. <span><span class="ref-journal">J Biol Chem. </span>2001;<span class="ref-vol">276</span>:36923–30.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11477083" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11477083</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.neumann.2001.65">Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R. Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. <span><span class="ref-journal">Genet Test. </span>2001;<span class="ref-vol">5</span>:65–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11336405" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11336405</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.newman.1991.3160">Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. <span><span class="ref-journal">Proc Natl Acad Sci U S A. </span>1991;<span class="ref-vol">88</span>:3160–4.</span> [<a href="/pmc/articles/PMC51405/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC51405</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/2014236" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2014236</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.nevo.2013.129">Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. <span><span class="ref-journal">Blood. </span>2013;<span class="ref-vol">121</span>:129–35.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23149847" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23149847</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.nichols.1998.61">Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. <span><span class="ref-journal">Cell. </span>1998;<span class="ref-vol">93</span>:61–70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9546392" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9546392</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.ohno.2003.739">Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. <span><span class="ref-journal">Hum Mol Genet. </span>2003;<span class="ref-vol">12</span>:739–48.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12651869" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12651869</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.oppenheim.1993.293">Oppenheim A, Jury CL, Rund D, Vulliamy TJ, Luzzatto L. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. <span><span class="ref-journal">Hum Genet. </span>1993;<span class="ref-vol">91</span>:293–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8478015" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8478015</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.ozlevi.2012.1065">Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. <span><span class="ref-journal">Am J Hum Genet. </span>2012;<span class="ref-vol">91</span>:1065–72.</span> [<a href="/pmc/articles/PMC3516605/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3516605</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23176824" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23176824</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.ozlevi.2019.107">Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Noncoding deletions reveal a gene that is critical for intestinal function. <span><span class="ref-journal">Nature. </span>2019;<span class="ref-vol">571</span>:107–11.</span> [<a href="/pmc/articles/PMC7061489/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7061489</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31217582" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31217582</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.parvari.1997.266">Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. <span><span class="ref-journal">Eur J Hum Genet. </span>1997;<span class="ref-vol">5</span>:266–70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9412782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9412782</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.peretz.1997.2654">Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, Mittelman M, Lupo H, Lanir N, Brenner B, Shpilberg O, Seligsohn U. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. <span><span class="ref-journal">Blood. </span>1997;<span class="ref-vol">90</span>:2654–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9326232" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9326232</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.perrault.1996.461">Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. <span><span class="ref-journal">Nat Genet. </span>1996;<span class="ref-vol">14</span>:461–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8944027" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8944027</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.raasrothschild.2004.e52">Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. <span><span class="ref-journal">J Med Genet. </span>2004;<span class="ref-vol">41</span>:e52. </span> [<a href="/pmc/articles/PMC1735719/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1735719</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15060128" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15060128</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.radha_rama_devi.2019.97">Radha Rama Devi A, Naushad SM. Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases. <span><span class="ref-journal">Gene. </span>2019;<span class="ref-vol">704</span>:97–102.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30978478" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30978478</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.reinstein.2016.38">Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. <span><span class="ref-journal">Mol Genet Metab. </span>2016;<span class="ref-vol">117</span>:38–41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26653794" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26653794</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.romdhane.2012.52">Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S. Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. <span><span class="ref-journal">Orphanet J Rare Dis. </span>2012;<span class="ref-vol">7</span>:52.</span> [<a href="/pmc/articles/PMC3495028/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3495028</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22908982" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22908982</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.sagi.2011.59">Sagi M, Eilat A, Ben Avi L, Goldberg Y, Bercovich D, Hamburger T, Peretz T, Lerer I. Two BRCA1/2 founder mutations in Jews of Sephardic origin. <span><span class="ref-journal">Fam Cancer. </span>2011;<span class="ref-vol">10</span>:59–63.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21063910" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21063910</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.segal.2004.99">Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. <span><span class="ref-journal">Blood Coagul Fibrinolysis. </span>2004;<span class="ref-vol">15</span>:99–102.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15166951" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15166951</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.spiegel.2009.1200">Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. <span><span class="ref-journal">Eur J Hum Genet. </span>2009;<span class="ref-vol">17</span>:1200–3.</span> [<a href="/pmc/articles/PMC2986593/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2986593</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19259137" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19259137</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.suriu.2009.230">Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC. Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. <span><span class="ref-journal">Clin Genet. </span>2009;<span class="ref-vol">75</span>:230–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/19250380" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19250380</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.tamary.2000.338">Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R. Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. <span><span class="ref-journal">Br J Haematol. </span>2000;<span class="ref-vol">111</span>:338–43.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11091222" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11091222</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.tamary.1996.283">Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lanir N, Brenner B, Paz M, Luder AS, Blau O, Korostishevsky M, Zaizov R, Seligsohn U. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. <span><span class="ref-journal">Thromb Haemost. </span>1996;<span class="ref-vol">76</span>:283–91.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8883260" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8883260</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.vallesayoub.2011.395">Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. <span><span class="ref-journal">Genet Test Mol Biomarkers. </span>2011;<span class="ref-vol">15</span>:395–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21291321" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21291321</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.white.1991.1664">White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. <span><span class="ref-journal">J Clin Invest. </span>1991;<span class="ref-vol">87</span>:1664–7.</span> [<a href="/pmc/articles/PMC295260/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC295260</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/2022736" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2022736</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.wolach.2017.28">Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, Ben Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Abuzaitoun O, Marcus N, Zion Garty B, Broides A, Levy J, Stepansky P, Etzioni A, Somech R, Roos D. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients. <span><span class="ref-journal">Am J Hematol. </span>2017;<span class="ref-vol">92</span>:28–36.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27701760" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27701760</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_sephardic.REF.zeevi.2021.e1756">Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J. 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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></li><li class="half_rhythm"><p><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></p></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><div class="fm-sec"><h2 id="_NBK588574_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, 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><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">January 12, 2023</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Wallace SE, Mirzaa GM. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population. 2023 Jan 12. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/founder_romani/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/founder_yupik/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobfoundersephardicTgeneticdisordersas"><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;">
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<i>ABCC2</i>
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</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;">
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<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>
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<br />
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<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>
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</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;">
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<a class="bibr" href="#founder_sephardic.REF.morcohen.2001.36923" rid="founder_sephardic.REF.morcohen.2001.36923">Mor-Cohen et al [2001]</a>
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</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/?report=reader">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="bibr" href="#founder_sephardic.REF.neumann.2001.65" rid="founder_sephardic.REF.neumann.2001.65">Neumann et al [2001]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.hashem.2017.70" rid="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/?report=reader"><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="bibr" href="#founder_sephardic.REF.reinstein.2016.38" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.parvari.1997.266" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.kaback.2010.628" rid="founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.beech.2011.74" rid="founder_sephardic.REF.beech.2011.74">Beech et al [2011]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zlotogora.1995.137" rid="founder_sephardic.REF.zlotogora.1995.137">Zlotogora et al [1995]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.radha_rama_devi.2019.97" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.gilad.1996.2033" rid="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="bibr" href="#founder_sephardic.REF.kaback.2010.628" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.barsade.1997.413" rid="founder_sephardic.REF.barsade.1997.413">Bar-Sade et al [1997]</a>, <a class="bibr" href="#founder_sephardic.REF.lerer.1998.272" rid="founder_sephardic.REF.lerer.1998.272">Lerer et al [1998]</a>, <a class="bibr" href="#founder_sephardic.REF.sagi.2011.59" rid="founder_sephardic.REF.sagi.2011.59">Sagi et al [2011]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.halle.2001.325" rid="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="bibr" href="#founder_sephardic.REF.nevo.2013.129" rid="founder_sephardic.REF.nevo.2013.129">Nevo et al [2013]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.auslender.2007.5431" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.meizahav.2018.e41" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.hart.2000.88" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>, <a class="bibr" href="#founder_sephardic.REF.wolach.2017.28" rid="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="bibr" href="#founder_sephardic.REF.white.1991.1664" rid="founder_sephardic.REF.white.1991.1664">White et al [1991]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.leshinskysilver.2006.73" rid="founder_sephardic.REF.leshinskysilver.2006.73">Leshinsky-Silver et al [2006]</a>, <a class="bibr" href="#founder_sephardic.REF.kaback.2010.628" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.leitersdorf.1993.2488" rid="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="bibr" href="#founder_sephardic.REF.zlotogorski.2006.1292" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.leshinskysilver.2007.950" rid="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="bibr" href="#founder_sephardic.REF.argov.2000.1229" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.falikzaccai.2012.505" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.bandahrozenfeld.2010a.4387" rid="founder_sephardic.REF.bandahrozenfeld.2010a.4387">Bandah-Rozenfeld et al [2010a]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.tamary.1996.283" rid="founder_sephardic.REF.tamary.1996.283">Tamary et al [1996]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.peretz.1997.2654" rid="founder_sephardic.REF.peretz.1997.2654">Peretz et al [1997]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.bandahrozenfeld.2010b.382" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.tamary.2000.338" rid="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/?report=reader"><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="bibr" href="#founder_sephardic.REF.chuang.2005.410" rid="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="bibr" href="#founder_sephardic.REF.oppenheim.1993.293" rid="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="bibr" href="#founder_sephardic.REF.karimi.2008.212" rid="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/?report=reader"><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="bibr" href="#founder_sephardic.REF.dubourg.2006.1721" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.kaback.2010.628" rid="founder_sephardic.REF.kaback.2010.628">Kaback et al [2010]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="founder_sephardic.REF.zlotogora.2015">Zlotogora [2015]</a>, <a class="bibr" href="#founder_sephardic.REF.zeevi.2021.e1756" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.raasrothschild.2004.e52" rid="founder_sephardic.REF.raasrothschild.2004.e52">Raas-Rothschild et al [2004]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.perrault.1996.461" rid="founder_sephardic.REF.perrault.1996.461">Perrault et al [1996]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.drucker.1992.371" rid="founder_sephardic.REF.drucker.1992.371">Drucker et al [1992]</a>, <a class="bibr" href="#founder_sephardic.REF.kaufman.1997.295" rid="founder_sephardic.REF.kaufman.1997.295">Kaufman et al [1997]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.newman.1991.3160" rid="founder_sephardic.REF.newman.1991.3160">Newman et al [1991]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.vallesayoub.2011.395" rid="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="bibr" href="#founder_sephardic.REF.segal.2004.99" rid="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="bibr" href="#founder_sephardic.REF.nichols.1998.61" rid="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="bibr" href="#founder_sephardic.REF.kaufmann.2010.667" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.aksentijevich.1999.949" rid="founder_sephardic.REF.aksentijevich.1999.949">Aksentijevich et al [1999]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.benzeev.2002.214" rid="founder_sephardic.REF.benzeev.2002.214">Ben-Zeev et al [2002]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.benshachar.2012.608" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.de_boer.2015.320" rid="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="bibr" href="#founder_sephardic.REF.spiegel.2009.1200" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.gerber.2000.276" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.suriu.2009.230" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.anikster.2001.1218" rid="founder_sephardic.REF.anikster.2001.1218">Anikster et al [2001]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.bercovich.2008.305" rid="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 exon 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="bibr" href="#founder_sephardic.REF.avigad.1990.168" rid="founder_sephardic.REF.avigad.1990.168">Avigad et al [1990]</a>, <a class="bibr" href="#founder_sephardic.REF.bercovich.2008.305" rid="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="bibr" href="#founder_sephardic.REF.ozlevi.2019.107" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.haimi_cohen.2012.379" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.ohno.2003.739" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.banin.2010.1749" rid="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="bibr" href="#founder_sephardic.REF.chefetz.2008.1423" rid="founder_sephardic.REF.chefetz.2008.1423">Chefetz et al [2008]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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="bibr" href="#founder_sephardic.REF.amir.2011.202" rid="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="bibr" href="#founder_sephardic.REF.agamy.2010.538" rid="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="bibr" href="#founder_sephardic.REF.colombo.2000.131" rid="founder_sephardic.REF.colombo.2000.131">Colombo [2000]</a>, <a class="bibr" href="#founder_sephardic.REF.lotan.2007.513" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.horn.2013.740" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.ozlevi.2012.1065" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.brownstein.2011.r89" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.zeharia.2009.401" rid="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="bibr" href="#founder_sephardic.REF.gershonibaruch.1994.586" rid="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/?report=reader">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="bibr" href="#founder_sephardic.REF.khateb.2012.e51566" rid="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/?report=reader">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>
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|
<br />
|
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<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>
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</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="bibr" href="#founder_sephardic.REF.auslender.2008.289" rid="founder_sephardic.REF.auslender.2008.289">Auslender et al [2008]</a>, <a class="bibr" href="#founder_sephardic.REF.zlotogora.2015" rid="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;">
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|
<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>
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</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;">
|
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<i>VPS13A</i>
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|
</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;">
|
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<a href="/books/n/gene/chac/?report=reader">Chorea-acanthocytosis</a>
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</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="bibr" href="#founder_sephardic.REF.benninger.2016.549" rid="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="bibr" href="#founder_sephardic.REF.feinstein.2014.303" rid="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="bibr" href="#founder_sephardic.REF.romdhane.2012.52" rid="founder_sephardic.REF.romdhane.2012.52">Romdhane et al [2012]</a>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; ICR = intestine critical region; MOI = mode of inheritance; N = North; NA = not applicable; XL = X-linked</p></div></dd></dl><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><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 <i>de novo</i> pathogenic variants occurring in this population.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="founder_sephardic.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this gene have not been reported in individuals of this ethnicity and/or from the specified region when indicated.</p></div></dd></dl><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="founder_sephardic.TF.e.5"><p class="no_margin">At least one additional pathogenic variant reported in this population in ≥1 family</p></div></dd></dl><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><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 homozygous for both variants listed (as this is a common haplotype); p.Val386Ala may not be disease causing.</p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="founder_sephardic.TF.e.8"><p class="no_margin">Affected individuals have been found to be homozygous for all variants listed resulting in the predicted protein change.</p></div></dd></dl><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><dt>10. </dt><dd><div id="founder_sephardic.TF.e.10"><p class="no_margin">Calculated carrier 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></dl><dl class="bkr_refwrap"><dt>11. </dt><dd><div id="founder_sephardic.TF.e.11"><p class="no_margin">Carrier frequency in Iraqi Jewish individuals</p></div></dd></dl><dl class="bkr_refwrap"><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 splice site of intron 3 and is known to cause abnormal splicing.</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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