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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 Caused by Nucleotide Repeat Expansions and Contractions - GeneReviews® - NCBI Bookshelf</title>
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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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<meta name="og:description" content="A nucleotide repeat is a sequence of nucleotides repeated a number of times in tandem; nucleotide repeats can occur within or near a gene. The size of nucleotide repeats varies: smaller numbers of repeats are common and not associated with phenotypic abnormalities; abnormally large numbers of repeats may be associated with phenotypic abnormalities and are classified as (in increasing order of size): mutable normal alleles, premutations, reduced-penetrance alleles, and full-penetrance alleles.">
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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="_NBK535148_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions</span></h1><p class="contribs">Wallace SE, Bean LJH.</p><p class="fm-aai"><a href="#_NBK535148_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 6 minutes</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><div id="resources_Table2.Nucleotide_Repeat_Expan"><h2 id="_resources_Table2_Nucleotide_Repeat_Expan_">Nucleotide Repeat Expansions and Contractions</h2><p>A nucleotide repeat is a sequence of nucleotides repeated a number of times in tandem; nucleotide repeats can occur within or near a gene. The size of nucleotide repeats varies: smaller numbers of repeats are common and not associated with phenotypic abnormalities; abnormally large numbers of repeats may be associated with phenotypic abnormalities and are classified as (in increasing order of size): mutable normal alleles, premutations, reduced-penetrance alleles, and full-penetrance alleles.</p><p>Molecular genetic testing used to sequence nucleotide repeats is more difficult than sequencing nonrepetitive regions of the exome because:</p><ul><li class="half_rhythm"><div>Many of the known nucleotide repeats contain a higher GC content, which is difficult to amplify by PCR; and</div></li><li class="half_rhythm"><div>Repetitive regions do not align uniquely; thus, the length of the repeated sequence cannot be determined.</div></li></ul><p>Specific assays are required to analyze each nucleotide repeat of interest:</p><ul><li class="half_rhythm"><div>DNA containing smaller nucleotide repeats can be amplified by PCR. The amplified segments of DNA are then separated by gel or capillary electrophoresis to determine repeat length.</div></li><li class="half_rhythm"><div>Highly expanded nucleotide repeats may not be detected by PCR-based assays due to difficulty in aligning the sequence to a unique genomic position. Additional testing (e.g., Southern blot analysis or triplet repeat primed PCR) may be required to determine the length of highly expanded nucleotide repeats.</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figresourcesTable2Tgeneticdisorderscau"><a href="/books/NBK535148/table/resources_Table2.T.genetic_disorders_cau/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobresourcesTable2Tgeneticdisorderscau"><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="resources_Table2.T.genetic_disorders_cau"><a href="/books/NBK535148/table/resources_Table2.T.genetic_disorders_cau/?report=objectonly" target="object" rid-ob="figobresourcesTable2Tgeneticdisorderscau">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions </p></div></div></div><div id="resources_Table2.References"><h2 id="_resources_Table2_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.d_lot.1999.123">Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. <span><span class="ref-journal">Hum Mol Genet. </span>1999;<span class="ref-vol">8</span>:123–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9887340" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9887340</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.favaro.2014">Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR. Am J Hum Genet. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. 2014;94:120-8. [<a href="/pmc/articles/PMC3882729/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3882729</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24360810" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24360810</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.ishiura.2019.1222">Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. <span><span class="ref-journal">Nat Genet. </span>2019;<span class="ref-vol">51</span>:1222–32.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31332380" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31332380</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.kekou.2016.254">Kekou K, Sofocleous C, Papadimas G, Petichakis D, Svingou M, Pons RM, Vorgia P, Gika A, Kitsiou-Tzeli S, Kanavakis E. A dynamic trinucleotide repeat (TNR) expansion in the DMD gene. <span><span class="ref-journal">Mol Cell Probes. </span>2016;<span class="ref-vol">30</span>:254–60.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27417533" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27417533</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.kozlowski.2010.4027">Kozlowski P, de Mezer M, Krzyzosiak WJ. Trinucleotide repeats in human genome and exome. <span><span class="ref-journal">Nucleic Acids Res. </span>2010;<span class="ref-vol">38</span>:4027–39.</span> [<a href="/pmc/articles/PMC2896521/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2896521</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20215431" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20215431</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.ranum.1999.466">Ranum LPW, Moseley ML, Leppet MF, et al. Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8. <span><span class="ref-journal">Am J Hum Genet. </span>1999;<span class="ref-vol">65</span>:466.</span></div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.scriba.2020.2904">Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. <span><span class="ref-journal">Brain. </span>2020;<span class="ref-vol">143</span>:2904–10.</span> [<a href="/pmc/articles/PMC7780484/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7780484</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33103729" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33103729</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.shibata.2016.61">Shibata A, Machida J, Yamaguchi S, Kimura M, Tatematsu T, Miyachi H, Matsushita M, Kitoh H, Ishiguro N, Nakayama A, Higashi Y, Shimozato K, Tokita Y. Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. <span><span class="ref-journal">Mutagenesis. </span>2016;<span class="ref-vol">31</span>:61–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26220009" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26220009</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.sone.2019.1215">Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. <span><span class="ref-journal">Nat Genet. </span>2019;<span class="ref-vol">51</span>:1215–21.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31332381" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31332381</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.stenson.2020.1197">Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. <span><span class="ref-journal">Hum Genet. </span>2020;<span class="ref-vol">139</span>:1197–207.</span> [<a href="/pmc/articles/PMC7497289/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7497289</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32596782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32596782</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.takagi.2014.569">Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. <span><span class="ref-journal">Pituitary. </span>2014;<span class="ref-vol">17</span>:569–74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24346842" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24346842</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.tian.2019.166">Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders. <span><span class="ref-journal">Am J Hum Genet. </span>2019;<span class="ref-vol">105</span>:166–76.</span> [<a href="/pmc/articles/PMC6612530/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6612530</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31178126" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31178126</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.tsuchiya.2020.1143">Tsuchiya M, Nan H, Koh K, Ichinose Y, Gao L, Shimozono K, Hata T, Kim YJ, Ohtsuka T, Cortese A, Takiyama Y. RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. <span><span class="ref-journal">J Hum Genet. </span>2020;<span class="ref-vol">65</span>:1143–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/32694621" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32694621</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="resources_Table2.REF.wieben.2014.6101">Wieben ED, Aleff RA, Eckloff BW, Atkinson EJ, Baheti S, Middha S, Brown WL, Patel SV, Kocher JP, Baratz KH. Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2014;<span class="ref-vol">55</span>:6101–7.</span> [<a href="/pmc/articles/PMC4179444/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4179444</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25168903" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25168903</span></a>]</div></p></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK535148_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 />Perkin-Elmer Genomics, Inc<br />Pittsburgh, Pennsylvania</div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">March 14, 2017</span>; Last Revision: <span itemprop="dateModified">October 20, 2022</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>AFF2</i>
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</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fragile X syndrome, FRAXE type (OMIM <a href="https://omim.org/entry/309548" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">309548</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Most common</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CCG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4-39</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>200</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>AR</i>
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</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/kennedy/?report=reader">Spinal and bulbar muscular atrophy</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤34</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥38</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ARX</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Early-infantile epileptic encephalopathy (OMIM <a href="https://omim.org/entry/308350" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">308350</a>);<br />Partington syndrome (OMIM <a href="https://omim.org/entry/309510" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">309510</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Most common</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCG (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 2<br />aa 110-115</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10-16</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17-27</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">GCG (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 2<br />aa 144-155</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATN1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 5</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6-35</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥48</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar ataxia type 1</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 8</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6-35</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥39</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca2/?report=reader">Spinocerebellar ataxia type 2</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤31</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>34</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN3</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar ataxia type 3</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 8</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12-44</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~60-87</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN7</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar ataxia type 7</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7-27</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">37-460</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN8</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar ataxia type 8</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN8OS</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">CTG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15-50<br />CTA/CTG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 3.</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ATXN10</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca10/?report=reader">Spinocerebellar ataxia type 10</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ATTCT</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 9</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10-32</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥800</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>BEAN1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spinocerebellar ataxia type 31 (OMIM <a href="https://omim.org/entry/117210" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">117210</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TGGAA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 6</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2.5- to 3.8-kb insertion</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>C9orf72</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/als-ftd/?report=reader"><i>C9orf72</i>-related amyotrophic lateral sclerosis and frontotemporal dementia</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGGGCC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Promotor or intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2-24</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>60</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CACNA1A</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca6/?report=reader">Spinocerebellar ataxia type 6</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>99%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 7</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤18</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20-33</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CNBP</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/myotonic-d2/?report=reader">Myotonic dystrophy type 2</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CCTG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤26</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥75</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>COMP</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/edm-ad/?report=reader">Multiple epiphyseal dysplasia</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>4</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">GAC (Asp)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Exon 13</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">5</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/psach/?report=reader">Pseudoachondroplasia</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">~33% <sup>4</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">2-4 or 7</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CSTB</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/epm1/?report=reader">Progressive myoclonic epilepsy type 1</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~90%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CCCCGCCCCGCG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Promoter</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2-3</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥30</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DAB1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca37/?report=reader">Spinocerebellar ataxia type 37</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ATTTC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR intron</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">31-75</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DIP2B</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mental retardation, FRA12A type (OMIM <a href="https://omim.org/entry/136630" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">136630</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CGG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Promoter</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6-23</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>350</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DMD</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Duchenne muscular dystrophy</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 family <sup>5</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GAA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 62</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11-33</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">59-82</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DMPK</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/myotonic-d/?report=reader">Myotonic dystrophy type 1</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CTG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-34</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>50</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>EIF4A3</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pierre Robin sequence with cleft mandible and limb anomalies (OMIM <a href="https://omim.org/entry/268305" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">268305</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Complex <sup>6</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-12</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥15</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FMR1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/fragilex/?report=reader"><i>FMR1</i>-related disorders</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>99%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CGG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-44</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>200</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FOXL2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/bpes/?report=reader">Blepharophimosis, ptosis, and epicanthus inversus</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">31%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">14</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15-24</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FXN</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/friedreich/?report=reader">Friedreich ataxia</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~98%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GAA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-33</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥66</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GIPC1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculopharyngodistal myopathy 2 (OMIM <a href="https://omim.org/entry/618940" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618940</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12-32</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">73-164</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GLS</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Glutaminase deficiency with impaired intellectual development and progressive ataxia (OMIM <a href="https://omim.org/entry/618412" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618412</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3 individuals</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-38</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">680-1500</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HOXA13</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hfg/?report=reader">Hand-foot-genital syndrome</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">50%-60%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1<br />aa 38</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">14</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">22</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Exon 1<br />aa 73</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">18</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Exon 1<br />aa 116</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8, 12, or 18</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">22-32</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HOXD13</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Syndactyly type V (OMIM <a href="https://omim.org/entry/186300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">186300</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3 individuals</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8-11 or ≥22</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>HTT</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington disease</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤26</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥40</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>JPH3</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/hd-l2/?report=reader">Huntington disease-like 2</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CTG (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 2A</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6-28</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥40</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LRP12</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculopharyngodistal myopathy (OMIM <a href="https://www.omim.org/entry/164310" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">164310</a>) <sup>7</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CGG/CGT</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">13-45</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MARCHF6</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy 3 (OMIM <a href="https://omim.org/entry/613608" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613608</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TTTTA/TTTCA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9-20 <sup>8</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">791-1035</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MUC1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mckd1/?report=reader">Autosomal dominant tubulointerstitial kidney disease, <i>MUC1</i>-related </a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~95%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">C <sup>9</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 2</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NOP56</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spinocerebellar ataxia type 36 (OMIM <a href="https://omim.org/entry/614153" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614153</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGCCTG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3-14</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥650</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NOTCH2NLC</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuronal intranuclear inclusion disease (OMIM <a href="https://omim.org/entry/603472" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603472</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGC <sup>10</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5' UTR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><38</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥66</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>NUTM2B-AS1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculopharyngeal myopathy with leukoencephalopathy 1 (OMIM <a href="https://omim.org/entry/618637" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618637</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% <sup>11</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CCG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Noncoding RNA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3-16</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>35</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PABPN1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal muscular dystrophy</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11-18</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PHOX2B</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/ondine/?report=reader">Congenital central hypoventilation syndrome</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">92%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 3</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≤20</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥24</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PPP2R2B</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spinocerebellar ataxia type 12 (OMIM <a href="https://omim.org/entry/604326" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604326</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Promoter</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7-31</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">51-78</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PRDM12</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hereditary sensory and autonomic neuropathy type VIII (OMIM <a href="https://omim.org/entry/616488" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">616488</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 families</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCC (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 5</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7-14</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">18-19</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PRNP</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/prion/?report=reader">Creutzfeldt-Jakob disease</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><15%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CCTCATGGTGGTGGCTGGGGGCAG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 2</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4 <sup>12</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5-16</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RAPGEF2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy type 7 (OMIM <a href="https://omim.org/entry/618075" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618075</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TTTCA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 14</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RFC1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/rfc1-canvas/?report=reader"><i>RFC1</i> CANVAS / spectrum disorder</a>
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</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AAGGG <sup>13</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 2</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11-200</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">400 to >2000</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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|
<i>RUNX2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/ccd/?report=reader">Cleidocranial dysplasia spectrum disorder</a>
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</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 individuals <sup>14</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20-27</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SAMD12</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy type 1 (OMIM <a href="https://omim.org/entry/601068" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601068</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TTTCA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 4</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥105</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SOX3</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Panhypopituitarism and intellectual disability with growth hormone deficiency (OMIM <a href="https://omim.org/entry/300123" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300123</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3 families <sup>15</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8 or 22-26</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>STARD7</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy 2 (OMIM <a href="https://omim.org/entry/607876" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607876</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ATTTT/ATTTC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ATTTT ?;<br />ATTTC 0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ATTTT(>274)<br />ATTTC(>340)</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TBP</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar ataxia type 17</a>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAG or CAA (Gln)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 3</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25-40</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">≥49</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TBX1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Tetralogy of Fallot (OMIM <a href="https://omim.org/entry/602054" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602054</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 individual</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 9c</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TCF4</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fuchs endothelial corneal dystrophy (OMIM <a href="https://omim.org/entry/613267" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613267</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~70%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CTG or CAG</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 3</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><40</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 16.</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TNRC6A</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy type 6 (OMIM <a href="https://omim.org/entry/618074" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618074</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% <sup>11</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TTTCA</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">29</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>VWA1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hereditary motor neuropathy (OMIM <a href="https://omim.org/entry/619216" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">619216</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">80%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGCGCGGAGC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 or 3</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>XYLT1</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Baratela-Scott syndrome (Desbuquois dysplasia type 2; OMIM <a href="https://omim.org/entry/615777" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615777</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GGC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Promoter</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9-20</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~>72</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>YEATS2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial adult myoclonic epilepsy 4 (OMIM <a href="https://omim.org/entry/615127" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615127</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% <sup>11</sup></td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">TTTTA/TTTTC</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intron 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">192</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ZIC2</i>
|
|
</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Holoprosencephaly type 5 (See <a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>.)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~40%</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCN (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 3</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25</td></tr><tr><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ZIC3</i>
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</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">VACTERL (OMIM <a href="https://omim.org/entry/300265" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300265</a>)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 individual</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GCC (Ala)</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10</td><td headers="hd_h_resources_Table2.T.genetic_disorders_cau_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12</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">The human genome includes >32,000 trinucleotide repeats of ≥6 repeated units. The human exome contains 1030 trinucleotide repeats in exons of 878 genes [<a class="bibr" href="#resources_Table2.REF.kozlowski.2010.4027" rid="resources_Table2.REF.kozlowski.2010.4027">Kozlowski et al 2010</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">aa = amino acid; AD = autosomal dominant; ALS = amyotrophic lateral sclerosis; AR = autosomal recessive; ORF = open reading frame; MOI = mode of inheritance; UTR = untranslated region; XL = X-linked</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="resources_Table2.TF.e.1"><p class="no_margin">Proportion of pathogenic variants in this gene that are caused by a nucleotide repeat expansion or contraction</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="resources_Table2.TF.e.2"><p class="no_margin">Includes data derived from the subscription-based professional view of Human Gene Mutation Database [<a class="bibr" href="#resources_Table2.REF.stenson.2020.1197" rid="resources_Table2.REF.stenson.2020.1197">Stenson et al 2020</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="resources_Table2.TF.e.3"><p class="no_margin">Penetrance is <100%; increased penetrance is reported for alleles of 54-250 CTA/CTG repeats. However, reduced penetrance has been reported at all allele sizes [<a class="bibr" href="#resources_Table2.REF.ranum.1999.466" rid="resources_Table2.REF.ranum.1999.466">Ranum et al 1999</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="resources_Table2.TF.e.4"><p class="no_margin">
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<a class="bibr" href="#resources_Table2.REF.d_lot.1999.123" rid="resources_Table2.REF.d_lot.1999.123">Délot et al [1999]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="resources_Table2.TF.e.5"><p class="no_margin">
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<a class="bibr" href="#resources_Table2.REF.kekou.2016.254" rid="resources_Table2.REF.kekou.2016.254">Kekou et al [2016]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="resources_Table2.TF.e.6"><p class="no_margin">This repeat comprises repeating units of 18 or 20 nucleotides that vary at a CA sequence. <br />• Normal repeat: CACA-20-nt(2-9)CA-18-nt(1)CACA-20-nt(1)CA-18-nt(1) – note, a normal allele has 5-12 total repeats.<br />• Abnormal allele: CACA-20-nt(1) CGCA-20-nt(12-13)CA-18-nt(1)CACA-20-nt(1)CA-18-nt(1) – note, a normal allele has 15-16 total repeats.<br />For the complete repeat sequence, see <a class="bibr" href="#resources_Table2.REF.favaro.2014" rid="resources_Table2.REF.favaro.2014">Favaro et al [2014]</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="resources_Table2.TF.e.7"><p class="no_margin">
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<a class="bibr" href="#resources_Table2.REF.ishiura.2019.1222" rid="resources_Table2.REF.ishiura.2019.1222">Ishiura et al [2019]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="resources_Table2.TF.e.8"><p class="no_margin">Healthy controls were found to have 9-20 TTTTC repeats; TTTCA repeats were only present in pathogenic alleles.</p></div></dd></dl><dl class="bkr_refwrap"><dt>9. </dt><dd><div id="resources_Table2.TF.e.9"><p class="no_margin">Duplication of one cytosine in a heptanucleotide cytosine tract within one copy of a 20-125 copy number VNTR (variable number tandem repeat). The specific VNTR involved varies by family but is consistent within a family.</p></div></dd></dl><dl class="bkr_refwrap"><dt>10. </dt><dd><div id="resources_Table2.TF.e.10"><p class="no_margin">Reported as a GGC repeat [<a class="bibr" href="#resources_Table2.REF.sone.2019.1215" rid="resources_Table2.REF.sone.2019.1215">Sone et al 2019</a>, <a class="bibr" href="#resources_Table2.REF.tian.2019.166" rid="resources_Table2.REF.tian.2019.166">Tian et al 2019</a>] and as a CGG repeat [<a class="bibr" href="#resources_Table2.REF.ishiura.2019.1222" rid="resources_Table2.REF.ishiura.2019.1222">Ishiura et al 2019</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>11. </dt><dd><div id="resources_Table2.TF.e.11"><p class="no_margin">Only one family reported to date</p></div></dd></dl><dl class="bkr_refwrap"><dt>12. </dt><dd><div id="resources_Table2.TF.e.12"><p class="no_margin">Normal <i>PRNP</i> alleles have one nonapeptide followed by four octapeptide tandem repeat sequences, each of which comprises the following amino acids: Pro-(His/Gln)-Gly-Gly-Gly-(-/Trp)-Gly-Gln.</p></div></dd></dl><dl class="bkr_refwrap"><dt>13. </dt><dd><div id="resources_Table2.TF.e.13"><p class="no_margin">ACAGG repeat expansion (~1000 repeats) reported in three families [<a class="bibr" href="#resources_Table2.REF.scriba.2020.2904" rid="resources_Table2.REF.scriba.2020.2904">Scriba et al 2020</a>, <a class="bibr" href="#resources_Table2.REF.tsuchiya.2020.1143" rid="resources_Table2.REF.tsuchiya.2020.1143">Tsuchiya et al 2020</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>14. </dt><dd><div id="resources_Table2.TF.e.14"><p class="no_margin">
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<a class="bibr" href="#resources_Table2.REF.shibata.2016.61" rid="resources_Table2.REF.shibata.2016.61">Shibata et al [2016]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>15. </dt><dd><div id="resources_Table2.TF.e.15"><p class="no_margin">
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<a class="bibr" href="#resources_Table2.REF.takagi.2014.569" rid="resources_Table2.REF.takagi.2014.569">Takagi et al [2014]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>16. </dt><dd><div id="resources_Table2.TF.e.16"><p class="no_margin">Penetrance is <100%; reduced penetrance has been reported in individuals with >80 CTG repeats [<a class="bibr" href="#resources_Table2.REF.wieben.2014.6101" rid="resources_Table2.REF.wieben.2014.6101">Wieben et al 2014</a>].</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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