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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 Bedouin Population - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2022/08/18">
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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="_NBK583118_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Bedouin Population</span></h1><p class="contribs">Wallace SE, Mirzaa GM.</p><p class="fm-aai"><a href="#_NBK583118_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 5 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 Bedouin 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="figfounderbedouinTgeneticdisordersasso"><a href="/books/NBK583118/table/founder_bedouin.T.genetic_disorders_asso/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfounderbedouinTgeneticdisordersasso"><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_bedouin.T.genetic_disorders_asso"><a href="/books/NBK583118/table/founder_bedouin.T.genetic_disorders_asso/?report=objectonly" target="object" rid-ob="figobfounderbedouinTgeneticdisordersasso">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Bedouin Population </p></div></div><div id="founder_bedouin.References"><h2 id="_founder_bedouin_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.anastasio.2010.553">Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. <span><span class="ref-journal">Am J Hum Genet. </span>2010;<span class="ref-vol">87</span>:553–9.</span> [<a href="/pmc/articles/PMC2948800/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2948800</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20887961" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20887961</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.baselvanagaite.2006.214">Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. <span><span class="ref-journal">Ann Neurol. </span>2006;<span class="ref-vol">60</span>:214–22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16786527" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16786527</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.berger.2008.405">Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. <span><span class="ref-journal">Ann Neurol. </span>2008;<span class="ref-vol">63</span>:405–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18306244" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18306244</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.birnbaum.2008.1063">Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. <span><span class="ref-journal">Am J Med Genet A. </span>2008;<span class="ref-vol">146A</span>:1063–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18348258" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18348258</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.chervinsky.2018.1001">Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. A homozygous TTN gene variant associated with lethal congenital contracture syndrome. <span><span class="ref-journal">Am J Med Genet A. </span>2018;<span class="ref-vol">176</span>:1001–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/29575618" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29575618</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.dgany.2002.1467">Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. <span><span class="ref-journal">Am J Hum Genet. </span>2002;<span class="ref-vol">71</span>:1467–74.</span> [<a href="/pmc/articles/PMC378595/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC378595</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12434312" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12434312</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.faiyazulhaque.2008.189">Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, Eltohami A, Al-Mureikhi MS, Al-Thani G, Peltekova VD, Tsui LC, Teebi AS. Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. <span><span class="ref-journal">Clin Genet. </span>2008;<span class="ref-vol">74</span>:189–93.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18565096" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18565096</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.flusser.2005.1426">Flusser H, Korman SH, Sato K, Matsubara Y, Galil A, Kure S. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. <span><span class="ref-journal">Neurology. </span>2005;<span class="ref-vol">64</span>:1426–30.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15851735" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15851735</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.khateeb.2006.942">Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. <span><span class="ref-journal">Am J Hum Genet. </span>2006;<span class="ref-vol">79</span>:942–8.</span> [<a href="/pmc/articles/PMC1698558/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1698558</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/17033970" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17033970</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.lahat.2001.1378">Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. <span><span class="ref-journal">Am J Hum Genet. </span>2001;<span class="ref-vol">69</span>:1378–84.</span> [<a href="/pmc/articles/PMC1235548/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1235548</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/11704930" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11704930</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.lev.2019.1672">Lev A, Simon AJ, Barel O, Eyal E, Glick-Saar E, Nayshool O, Birk O, Stauber T, Hochberg A, Broides A, Almashanu S, Hendel A, Lee YN, Somech R. Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation. <span><span class="ref-journal">Front Immunol. </span>2019;<span class="ref-vol">10</span>:1672.</span> [<a href="/pmc/articles/PMC6650764/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6650764</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31379863" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31379863</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.levitas.2010.1160">Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. <span><span class="ref-journal">Eur J Hum Genet. </span>2010;<span class="ref-vol">18</span>:1160–5.</span> [<a href="/pmc/articles/PMC2987458/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2987458</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20551992" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20551992</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.magen.2008.30">Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. <span><span class="ref-journal">Am J Hum Genet. </span>2008;<span class="ref-vol">83</span>:30–42.</span> [<a href="/pmc/articles/PMC2443844/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2443844</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18571143" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18571143</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.miura.2000.3687">Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M. A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. <span><span class="ref-journal">J Clin Endocrinol Metab. </span>2000;<span class="ref-vol">85</span>:3687–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11061524" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11061524</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.muhammad.2011.397">Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. <span><span class="ref-journal">Hum Genet. </span>2011;<span class="ref-vol">129</span>:397–405.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21184099" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21184099</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.narkis.2007.589">Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. <span><span class="ref-journal">Am J Hum Genet. </span>2007;<span class="ref-vol">81</span>:589–95.</span> [<a href="/pmc/articles/PMC1950827/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1950827</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/17701904" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17701904</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.perez.2016.397">Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. <span><span class="ref-journal">J Med Genet. </span>2016;<span class="ref-vol">53</span>:397–402.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26545877" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26545877</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.romi.2012.893">Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. <span><span class="ref-journal">Am J Hum Genet. </span>2012;<span class="ref-vol">90</span>:893–9.</span> [<a href="/pmc/articles/PMC3376486/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3376486</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22521417" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22521417</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.schreyershafir.2006.1158">Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. <span><span class="ref-journal">Hum Mutat. </span>2006;<span class="ref-vol">27</span>:1158.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17041891" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17041891</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.shatzky.2000.353">Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. <span><span class="ref-journal">Am J Med Genet. </span>2000;<span class="ref-vol">92</span>:353–60.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10861667" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10861667</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.staretzchacham.2018.1609">Staretz-Chacham O, Aviram M, Morag I, Goldbart A, Hershkovitz E. Pulmonary involvement in Niemann-Pick C type 1. <span><span class="ref-journal">Eur J Pediatr. </span>2018;<span class="ref-vol">177</span>:1609–15.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30066180" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30066180</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.tamary.2008.5241">Tamary H, Shalev H, Perez-Avraham G, Zoldan M, Levi I, Swinkels DW, Tanno T, Miller JL. Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. <span><span class="ref-journal">Blood. </span>2008;<span class="ref-vol">112</span>:5241–4.</span> [<a href="/pmc/articles/PMC2954708/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2954708</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18824595" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18824595</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.tory.2009.839">Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. <span><span class="ref-journal">Kidney Int. </span>2009;<span class="ref-vol">75</span>:839–47.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/19177160" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19177160</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.volodarsky.2013.582">Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. <span><span class="ref-journal">Hum Mutat. </span>2013;<span class="ref-vol">34</span>:582–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23316006" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23316006</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.walder.2002.171">Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. <span><span class="ref-journal">Nat Genet. </span>2002;<span class="ref-vol">31</span>:171–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12032570" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12032570</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_bedouin.REF.zlotogora.2016.203">Zlotogora J, Grotto I, Kaliner E, Gamzu R. The Israeli national population program of genetic carrier screening for reproductive purposes. <span><span class="ref-journal">Genet Med. </span>2016;<span class="ref-vol">18</span>:203–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25880436" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25880436</span></a>]</div></p></li></ul></div><div id="founder_bedouin.Revision_History"><h2 id="_founder_bedouin_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>18 August 2022 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK583118_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">August 18, 2022</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 Bedouin Population. 2022 Aug 18. 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_ashkenazi/?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_bukharan_jewish/?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="figobfounderbedouinTgeneticdisordersasso"><div id="founder_bedouin.T.genetic_disorders_asso" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Bedouin Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583118/table/founder_bedouin.T.genetic_disorders_asso/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_bedouin.T.genetic_disorders_asso_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Pathogenic Variants in Gene <sup>1</sup></th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_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_bedouin.T.genetic_disorders_asso_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity<br />(Specific Region)</th><th id="hd_h_founder_bedouin.T.genetic_disorders_asso_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_bedouin.T.genetic_disorders_asso_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_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CA12</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hyperchlorhidrosis, isolated (OMIM <a href="https://omim.org/entry/143860" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">143860</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.427G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu143Lys</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/64</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_001218.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001218<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_001209.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001209<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.muhammad.2011.397" rid="founder_bedouin.REF.muhammad.2011.397">Muhammad et al [2011]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CASQ2</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/cvt/?report=reader">Catecholaminergic polymorphic ventricular tachycardia, type 2</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.919G>C</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp307His</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_001232.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001232<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_001223.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001223<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.lahat.2001.1378" rid="founder_bedouin.REF.lahat.2001.1378">Lahat et al [2001]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CDAN1</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/cda1/?report=reader">Congenital dyserthropoietic anemia type I</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3124C>T</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1042Trp</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/96</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_138477.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_138477<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_612486.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_612486<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_bedouin.REF.dgany.2002.1467" rid="founder_bedouin.REF.dgany.2002.1467">Dgany et al [2002]</a>, <a class="bibr" href="#founder_bedouin.REF.tamary.2008.5241" rid="founder_bedouin.REF.tamary.2008.5241">Tamary et al [2008]</a></td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ERBB3</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Lethal contractural syndrome type 2 (OMIM <a href="https://omim.org/entry/607598" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607598</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1184-9A>G</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Negev, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_001982.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001982<wbr style="display:inline-block"></wbr>​.4</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.narkis.2007.589" rid="founder_bedouin.REF.narkis.2007.589">Narkis et al [2007]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GLDC</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/nkh/?report=reader">Nonketotic hyperglycinemia</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2607C>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 3.</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Negev, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_000170.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000170<wbr style="display:inline-block"></wbr>​.3</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.flusser.2005.1426" rid="founder_bedouin.REF.flusser.2005.1426">Flusser et al [2005]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GUCY2C</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Meconium ileus (OMIM <a href="https://omim.org/entry/614665" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614665</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1160A>G</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp387Gly</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100%</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/80</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_004963.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004963<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_004954.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004954<wbr style="display:inline-block"></wbr>​.2</a>
|
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.romi.2012.893" rid="founder_bedouin.REF.romi.2012.893">Romi et al [2012]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>HPS6</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak syndrome</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1065dupG</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu356AlafsTer11</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_024747.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024747<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_079023.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_079023<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.schreyershafir.2006.1158" rid="founder_bedouin.REF.schreyershafir.2006.1158">Schreyer-Shafir et al [2006]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HSPD1</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypomyelinating leukodystrophy 4 (OMIM <a href="https://omim.org/entry/612233" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612233</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.86A>G</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp29Gly</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_002156.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002156<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002147.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002147<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.magen.2008.30" rid="founder_bedouin.REF.magen.2008.30">Magen et al [2008]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>IL7R</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe combined immunodeficiency (OMIM <a href="https://omim.org/entry/608971" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608971</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.120C>G</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe40Leu</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/120</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_002185.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002185<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002176.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002176<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.lev.2019.1672" rid="founder_bedouin.REF.lev.2019.1672">Lev et al [2019]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>INVS</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/nephron-ov/?report=reader">Infantile nephronophthisis</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2719C>T</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg907Ter</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_014425.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014425<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055240.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055240<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.tory.2009.839" rid="founder_bedouin.REF.tory.2009.839">Tory et al [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ITGB4</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/eb-pa/?report=reader">Carmi syndrome</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3279_3739+180del2279</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(S Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_007372.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_007372<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.birnbaum.2008.1063" rid="founder_bedouin.REF.birnbaum.2008.1063">Birnbaum et al [2008]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NDUFA11</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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/618236" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618236</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.97+5G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_175614.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_175614<wbr style="display:inline-block"></wbr>​.5</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.berger.2008.405" rid="founder_bedouin.REF.berger.2008.405">Berger et al [2008]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NPC1</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/npc/?report=reader">Niemann-Pick disease type C</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1211G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg404Gln</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(S Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_000271.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000271<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000262.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000262<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.staretzchacham.2018.1609" rid="founder_bedouin.REF.staretzchacham.2018.1609">Staretz-Chacham et al [2018]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_bedouin.T.genetic_disorders_asso_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_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1842_1843insT</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro615SerfsTer12</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">89%</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/35</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Negev, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_001012331.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001012331<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001012331.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001012331<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_bedouin.REF.shatzky.2000.353" rid="founder_bedouin.REF.shatzky.2000.353">Shatzky et al [2000]</a>, <a class="bibr" href="#founder_bedouin.REF.zlotogora.2016.203" rid="founder_bedouin.REF.zlotogora.2016.203">Zlotogora et al [2016]</a></td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NUP62</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Infantile striatonigral degeneration (OMIM <a href="https://omim.org/entry/271930" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">271930</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1172A>C</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln391Pro</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_153719.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_153719<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_714941.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_714941<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.baselvanagaite.2006.214" rid="founder_bedouin.REF.baselvanagaite.2006.214">Basel-Vanagaite et al [2006]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PLA2G6</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/inad/?report=reader"><i>PLA2G6</i>-associated neurodegeneration</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2070_2072delTGT</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val691del</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/300</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_003560.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003560<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003551.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003551<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.khateeb.2006.942" rid="founder_bedouin.REF.khateeb.2006.942">Khateeb et al [2006]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SCARF2</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">van den Ende Gupta syndrome (OMIM <a href="https://omim.org/entry/600920" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600920</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.773G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys258Tyr</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/54</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Qatar)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_153334.7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_153334<wbr style="display:inline-block"></wbr>​.7</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_699165.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_699165<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.anastasio.2010.553" rid="founder_bedouin.REF.anastasio.2010.553">Anastasio et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1328_1329delTG</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val443AspfsTer83</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SDHA</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mitochondrial complex II deficiency (OMIM <a href="https://omim.org/entry/252011" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">252011</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1664G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly555Glu</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_004168.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_004168<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_004159.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_004159<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.levitas.2010.1160" rid="founder_bedouin.REF.levitas.2010.1160">Levitas et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC2A10</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/arterial-t/?report=reader">Arterial tortuosity syndrome</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.243C>G</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser81Arg</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Qatar)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_030777.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_030777<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_110404.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_110404<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.faiyazulhaque.2008.189" rid="founder_bedouin.REF.faiyazulhaque.2008.189">Faiyaz-Ul-Haque et al [2008]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC26A4</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pendred/?report=reader">Pendred syndrome</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1198delT</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys400ValfsTer32</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/46</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Galilee, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_000441.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000441<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000432.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000432<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.zlotogora.2016.203" rid="founder_bedouin.REF.zlotogora.2016.203">Zlotogora et al [2016]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TBCE</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sanjad-Sakati syndrome (OMIM <a href="https://omim.org/entry/241410" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">241410</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.155_166delGCCACGAAGGGA</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser52_Gly55del</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/49</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Negev, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_003193.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003193<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003184.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003184<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.zlotogora.2016.203" rid="founder_bedouin.REF.zlotogora.2016.203">Zlotogora et al [2016]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SERPINA7</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Thyroxine-binding globulin deficiency (OMIM <a href="https://omim.org/entry/314200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">314200</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.174delT</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val59TrpfsTer13</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Negev, Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_000354.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000354<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000345.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000345<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.miura.2000.3687" rid="founder_bedouin.REF.miura.2000.3687">Miura et al [2000]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TMEM38B</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Osteogenesis imperfecta, type XIV (OMIM <a href="https://omim.org/entry/615066" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615066</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.32476_53457delinsAATTAAGGTATA<br />(del of exon 4 <sup>4</sup>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/100</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_032971.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_032971<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_bedouin.REF.volodarsky.2013.582" rid="founder_bedouin.REF.volodarsky.2013.582">Volodarsky et al [2013]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TRPM6</i>
|
|
</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypomagnesemia with secondary hypocalcemia (OMIM <a href="https://omim.org/entry/602014" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602014</a>)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2009+1G>A</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">unknown</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_017662.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017662<wbr style="display:inline-block"></wbr>​.5</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.walder.2002.171" rid="founder_bedouin.REF.walder.2002.171">Walder et al [2002]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>TTN</i> <sup>5</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Lethal contracture syndrome</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.36122delC</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro12041LeufsTer117</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/20</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(N Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_001267550.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001267550<wbr style="display:inline-block"></wbr>​.2</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001254479.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001254479<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.chervinsky.2018.1001" rid="founder_bedouin.REF.chervinsky.2018.1001">Chervinsky et al [2018]</a>
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</td></tr><tr><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>UNC80</i>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/unc80-def/?report=reader">UNC80 deficiency</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.151C>T</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg51Ter</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/150</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bedouin<br />(S Israel)</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_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_032504.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032504<wbr style="display:inline-block"></wbr>​.2</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_115893.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_115893<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_founder_bedouin.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_bedouin.REF.perez.2016.397" rid="founder_bedouin.REF.perez.2016.397">Perez et al [2016]</a>
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</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; MOI = mode of inheritance; N = Northern; S = Southern; XL = X-linked</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="founder_bedouin.TF.e.1"><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>2. </dt><dd><div id="founder_bedouin.TF.e.2"><p class="no_margin">To date, no additional pathogenic variants in this gene have been reported in individuals of Bedouin descent.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="founder_bedouin.TF.e.3"><p class="no_margin">DNA nucleotide change introduces new splice site and does not result in predicted protein change.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="founder_bedouin.TF.e.4"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="founder_bedouin.TF.e.5"><p class="no_margin">Reported <i>TTN</i> variant affects transcript variant IC (<i>ttnic</i>), an isoform of <i>TTN.</i></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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