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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 Faroe Islander 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 Faroe Islander 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="Lora JH Bean">
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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="_NBK551090_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population</span></h1><p class="contribs">Wallace SE, Bean LJH.</p><p class="fm-aai"><a href="#_NBK551090_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 3 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 Faroese 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. In addition, some variants included here have been exclusively reported in individuals of Faroese ancestry but have not been proven to be founder variants.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figfounderfaroeseTgeneticdisordersasso"><a href="/books/NBK551090/table/founder_faroese.T.genetic_disorders_asso/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfounderfaroeseTgeneticdisordersasso"><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_faroese.T.genetic_disorders_asso"><a href="/books/NBK551090/table/founder_faroese.T.genetic_disorders_asso/?report=objectonly" target="object" rid-ob="figobfounderfaroeseTgeneticdisordersasso">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population </p></div></div><div id="founder_faroese.References"><h2 id="_founder_faroese_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.bull.1998.219">Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RHJ, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. <span><span class="ref-journal">Nat Genet. </span>1998;<span class="ref-vol">18</span>:219–24.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9500542" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9500542</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.carrozzo.2007.862">Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. <span><span class="ref-journal">Brain. </span>2007;<span class="ref-vol">130</span>:862–74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17301081" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17301081</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.gal.2011.382">Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. <span><span class="ref-journal">Am J Hum Genet. </span>2011;<span class="ref-vol">88</span>:382–90.</span> [<a href="/pmc/articles/PMC3059417/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3059417</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21397065" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21397065</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.gr_nborg.2018.1512">Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. <span><span class="ref-journal">Eur J Hum Genet. </span>2018;<span class="ref-vol">26</span>:1512–20.</span> [<a href="/pmc/articles/PMC6138752/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6138752</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29921875" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29921875</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.gr_nskov.2013.415">Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. <span><span class="ref-journal">Am J Hum Genet. </span>2013;<span class="ref-vol">92</span>:415–21.</span> [<a href="/pmc/articles/PMC3591853/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3591853</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23395477" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23395477</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.hjortsh_j.2009.409">Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. <span><span class="ref-journal">Br J Ophthalmol. </span>2009;<span class="ref-vol">93</span>:409–13.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18669544" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18669544</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.jeganathan.2004.233">Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EMK, Mitchison HM. Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. <span><span class="ref-journal">J Med Genet. </span>2004;<span class="ref-vol">41</span>:233–40.</span> [<a href="/pmc/articles/PMC1735711/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1735711</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/14985390" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14985390</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.lund.2007.341">Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. <span><span class="ref-journal">J Inherit Metab Dis. </span>2007;<span class="ref-vol">30</span>:341–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17417720" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17417720</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.olbrich.2012.672">Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. <span><span class="ref-journal">Am J Hum Genet. </span>2012;<span class="ref-vol">91</span>:672–84.</span> [<a href="/pmc/articles/PMC3484652/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3484652</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23022101" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23022101</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.ostergaard.2010.665">Ostergaard E, Batbayli M, Duno M, Vihelmsen K, Rosenberg T. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. <span><span class="ref-journal">J Med Genet. </span>2010;<span class="ref-vol">47</span>:665–9.</span> [<a href="/pmc/articles/PMC2976051/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2976051</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20805371" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20805371</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.ostergaard.2011.1485">Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases. <span><span class="ref-journal">Mol Vis. </span>2011;<span class="ref-vol">17</span>:1485–92.</span> [<a href="/pmc/articles/PMC3110495/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3110495</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21677792" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21677792</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.ostergaard.2007.853">Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. <span><span class="ref-journal">Brain. </span>2007;<span class="ref-vol">130</span>:853–61.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17287286" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17287286</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.santer.2001.388">Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. <span><span class="ref-journal">Eur J Hum Genet. </span>2001;<span class="ref-vol">9</span>:388–91.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11378828" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11378828</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_faroese.REF.schwartz.1995.703">Schwartz M, Sørensen N, Brandt NJ, Høgdall E, Holm T. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. <span><span class="ref-journal">Hum Genet. </span>1995;<span class="ref-vol">95</span>:703–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7789957" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7789957</span></a>]</div></p></li></ul></div><div id="founder_faroese.Revision_History"><h2 id="_founder_faroese_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>12 January 2023 (sw) Revision: Reference sequences updated</div></li><li class="half_rhythm"><div>19 December 2019 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK551090_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, Pediatrics<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.wu@2rotide" class="oemail">ude.wu@2rotide</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Lora JH Bean</span>, PhD<div class="affiliation small">Molecular Genetics Editor, <i>GeneReviews</i></div><div class="affiliation small">Senior Director, Laboratory Quality Assurance<br />PerkinElmer Genomics, Inc<br />Pittsburgh, Pennsylvania</div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">December 19, 2019</span>; Last Revision: <span itemprop="dateModified">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. 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<i>AGL</i>
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</td><td headers="hd_h_founder_faroese.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/gsd3/?report=reader">Glycogen storage disease type III</a>
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</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1222C>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg408Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_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_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.santer.2001.388" rid="founder_faroese.REF.santer.2001.388">Santer et al [2001]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATP8B1</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pfic/?report=reader">ATP8B1 deficiency</a>
|
|
</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1982T>C</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile661Thr</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_005603.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005603<wbr style="display:inline-block"></wbr>​.6</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005594.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005594<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.bull.1998.219" rid="founder_faroese.REF.bull.1998.219">Bull et al [1998]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BBS1</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl syndrome</a>
|
|
</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1110+3G>C<br /><p>(IVS11+3G>C)</p></td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_024649.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024649<wbr style="display:inline-block"></wbr>​.5</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.hjortsh_j.2009.409" rid="founder_faroese.REF.hjortsh_j.2009.409">Hjortshøj et al [2009]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CDHR1</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cone-rod dystrophy 15 (OMIM <a href="https://omim.org/entry/613660" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613660</a>)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.524dupA</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn176GlufsTer48</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/53</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_033100.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033100<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_149091.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_149091<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.ostergaard.2010.665" rid="founder_faroese.REF.ostergaard.2010.665">Ostergaard et al [2010]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_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_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1521_1523delCTT</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe508del</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_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_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.schwartz.1995.703" rid="founder_faroese.REF.schwartz.1995.703">Schwartz et al [1995]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HLCS</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Holocarboxylase synthetase deficiency (OMIM <a href="https://omim.org/entry/253270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">253270</a>)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1519+5G>A<br /><p>(IVS8+5G>A)</p></td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/22</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_000411.8" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000411<wbr style="display:inline-block"></wbr>​.8</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.lund.2007.341" rid="founder_faroese.REF.lund.2007.341">Lund et al [2007]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HYDIN</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pcd/?report=reader">Primary ciliary dyskinesia</a>
|
|
</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.922A>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys308Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_001270974.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001270974<wbr style="display:inline-block"></wbr>​.2</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001257903.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001257903<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_faroese.REF.jeganathan.2004.233" rid="founder_faroese.REF.jeganathan.2004.233">Jeganathan et al [2004]</a>, <a class="bibr" href="#founder_faroese.REF.olbrich.2012.672" rid="founder_faroese.REF.olbrich.2012.672">Olbrich et al [2012]</a></td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LRMDA</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculocutaneous albinism type VII (OMIM <a href="https://omim.org/entry/615179" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615179</a>)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.580C>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg194Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_032024.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032024<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_114413.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_114413<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.gr_nskov.2013.415" rid="founder_faroese.REF.gr_nskov.2013.415">Grønskov et al [2013]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MERTK</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinitis pigmentosa 38 (See <a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic RP Overview</a>.)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.-8162_1145-1212del91057<br />[91-kb del incl exons 1-7] <sup>1</sup></td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/31</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_006343.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_006343<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_faroese.REF.ostergaard.2011.1485" rid="founder_faroese.REF.ostergaard.2011.1485">Ostergaard et al [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PRSS56</i>
|
|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Isolated microphthalmia 6 (OMIM <a href="https://omim.org/entry/613517" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613517</a>)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.526C>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg176Gly</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12%</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_001195129.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001195129<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_001182058.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001182058<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_faroese.REF.gal.2011.382" rid="founder_faroese.REF.gal.2011.382">Gal et al [2011]</a>
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</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.926G>C</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Trp309Ser</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">88%</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.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>SLC22A5</i>
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</td><td headers="hd_h_founder_faroese.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/cdsp/?report=reader">Systemic primary carnitine deficiency</a>
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</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.95A>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn32Ser</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/18</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_003060.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003060<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_003051.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003051<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_founder_faroese.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_faroese.REF.lund.2007.341" rid="founder_faroese.REF.lund.2007.341">Lund et al [2007]</a>
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</td></tr><tr><td headers="hd_h_founder_faroese.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>SUCLA2</i>
|
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</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sucla2-def/?report=reader"><i>SUCLA2</i>-related mtDNA depletion syndrome</a>
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</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.534+1G>A<br /><p>(IVS4+1G>A)</p></td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/33 to 1/50</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_003850.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003850<wbr style="display:inline-block"></wbr>​.3</a>
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|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_faroese.REF.carrozzo.2007.862" rid="founder_faroese.REF.carrozzo.2007.862">Carrozzo et al [2007]</a>, <a class="bibr" href="#founder_faroese.REF.ostergaard.2007.853" rid="founder_faroese.REF.ostergaard.2007.853">Ostergaard et al [2007]</a></td></tr><tr><td headers="hd_h_founder_faroese.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>TBCD</i>
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|
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, progressive, early-onset, w/brain atrophy & thin corpus callosum (OMIM <a href="https://omim.org/entry/617193" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617193</a>)</td><td headers="hd_h_founder_faroese.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_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3099C>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn1033Lys</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/38</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.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_005993.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005993<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_005984.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005984<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_faroese.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_faroese.REF.gr_nborg.2018.1512" rid="founder_faroese.REF.gr_nborg.2018.1512">Grønborg et al [2018]</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">AR = autosomal recessive; MOI = mode of inheritance; RP = retinitis pigmentosa</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="founder_faroese.TF.e.1"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="founder_faroese.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_faroese.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this gene have not been reported in individuals of Faroese descent.</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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