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Entry
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- *617371 - ZINC FINGER PROTEIN 462; ZNF462
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*617371</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/617371">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000148143;t=ENST00000277225" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=58499" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=617371" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000148143;t=ENST00000277225" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001347997,NM_021224,XM_006717209,XM_006717211,XM_006717212,XM_006717215,XM_006717216,XM_017014996,XM_017014997,XM_017014998,XM_024447629,XM_047423661,XM_047423662,XM_047423663,XM_047423664,XM_047423665,XM_047423666,XM_047423667,XM_047423668,XM_047423669,XM_047423670,XM_047423671,XM_047423672,XM_047423673,XM_047423674,XM_047423675,XM_047423676,XM_047423677,XM_047423678,XM_047423679,XM_047423680,XM_047423681,XM_047423682,XM_047423683,XM_047423684,XM_047423685" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_021224" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=617371" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/ZNF462" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/8655617,20521986,22477432,34534877,51491277,52546041,114431236,119579414,119579415,119579416,194378490,238054352,578817711,578817715,578817717,578817723,578817725,1034670909,1034670911,1034670916,1126305177,1370514905,2217378027,2217378030,2217378032,2217378035,2217378039,2217378041,2217378043,2217378045,2217378048,2217378050,2217378052,2217378055,2217378057,2217378059,2217378061,2217378063,2217378065,2217378067,2217378069,2217378071,2217378073,2217378075,2217378077,2217378080,2217378082,2462625676,2462625678,2462625680,2462625682,2462625684,2462625686,2462625688,2462625690,2462625692,2462625694,2462625696,2462625698,2462625700,2462625702,2462625704,2462625706,2462625708,2462625710,2462625712,2462625714,2462625716,2462625718,2462625720,2462625722,2462625724,2462625726,2462625728,2462625730,2462625732,2462625734,2462625736,2462625738" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q96JM2" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=58499" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148143;t=ENST00000277225" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF462" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ZNF462" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+58499" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ZNF462" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:58499" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/58499" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000789230.1&hgg_start=106860158&hgg_end=107013634&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21684" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:21684" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617371[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=617371[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ZNF462/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000148143" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ZNF462" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ZNF462" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ZNF462" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ZNF462&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134949139" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:21684" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:107690" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ZNF462#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:107690" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/58499/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=58499" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-6997" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ZNF462&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1179283004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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617371
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ZINC FINGER PROTEIN 462; ZNF462
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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KIAA1803
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ZNF462" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZNF462</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/9/392?start=-3&limit=10&highlight=392">9q31.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:106860158-107013634&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:106,860,158-107,013,634</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/9/392?start=-3&limit=10&highlight=392">
|
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9q31.2
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Weiss-Kruszka syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/618619"> 618619 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/617371" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/617371" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<p>The ZNF462 gene encodes a transcription factor that is believed to have an important role in embryonic development and chromatin remodeling (summary by <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated fetal human brain cDNA library, <a href="#3" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 8: 85-95, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>] [<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11347906">Nagase et al. (2001)</a> cloned ZNF462, which they designated KIAA1803. The deduced 1,299-amino acid protein has 9 C2H2 zinc finger motifs. RT-PCR ELISA detected KIAA1803 in all adult and fetal tissues and specific adult brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Western blot analysis, <a href="#4" class="mim-tip-reference" title="Wang, B., Zheng, Y., Shi, H., Du, X., Zhang, Y., Wei, B., Luo, M., Wang, H., Wu, X., Hua, X., Sun, M., Xu, X. <strong>Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice.</strong> Genes Brain Behav. 16: 296-307, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27621227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27621227</a>] [<a href="https://doi.org/10.1111/gbb.12339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27621227">Wang et al. (2017)</a> showed that Zfp462 was expressed in mouse heart, liver, lung, kidney, muscle, and whole brain. Highest expression was in brain, and Zfp462 expression was more abundant in cortex and hippocampus than other brain regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27621227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 2/27/2017."None>Hartz (2017)</a> mapped the ZNF462 gene to chromosome 9q31.2 based on an alignment of the ZNF462 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL359561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL359561</a>) with the genomic sequence (GRCh38).</p>
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<p>By immunoprecipitation analysis, <a href="#4" class="mim-tip-reference" title="Wang, B., Zheng, Y., Shi, H., Du, X., Zhang, Y., Wei, B., Luo, M., Wang, H., Wu, X., Hua, X., Sun, M., Xu, X. <strong>Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice.</strong> Genes Brain Behav. 16: 296-307, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27621227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27621227</a>] [<a href="https://doi.org/10.1111/gbb.12339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27621227">Wang et al. (2017)</a> showed that Zfp462 interacted with Pbx1 (<a href="/entry/176310">176310</a>), a cofactor of Hoxb8 (<a href="/entry/142963">142963</a>), in mouse brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27621227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4-affected members of a 4-generation family (family 1) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#5" class="mim-tip-reference" title="Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P. <strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong> Europ. J. Hum. Genet. 25: 946-951, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28513610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28513610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28513610[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2017.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28513610">Weiss et al. (2017)</a> identified a heterozygous nonsense mutation in the ZNF462 gene (R1263X; <a href="#0001">617371.0001</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, with evidence of variable expressivity. Three additional unrelated patients with a similar phenotype were found to carry de novo heterozygous loss-of-function mutations in the ZNF462 gene (see, e.g., <a href="#0002">617371.0002</a>-<a href="#0003">617371.0003</a>). Functional studies of the variants and studies of patient cells were not performed, but all variants were predicted to result in a loss of function and haploinsufficiency. The authors noted that the ZNF462 gene is highly conserved in most mammals and is intolerant of loss-of-function variants based on databases of genetic variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28513610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 14 unrelated patients with WSKA, <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al. (2019)</a> identified heterozygous loss-of-function mutations in the ZNF462 gene (see, e.g., <a href="#0004">617371.0004</a>-<a href="#0007">617371.0007</a>). The patients were diagnosed by whole-exome or whole-genome sequencing in multiple research and commercial labs, and 9 were found through GeneMatcher. Most of the mutations occurred de novo, but there was one instance of paternal transmission from a mildly affected father and another instance of maternal transmission from an unaffected mother who was mosaic for the mutation. Most of the mutations occurred in exon 3, which makes up 54% of the coding region. Functional studies of the variants and studies of patient cells were not performed, but all variants were predicted to result in ZNF462 haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Wang, B., Zheng, Y., Shi, H., Du, X., Zhang, Y., Wei, B., Luo, M., Wang, H., Wu, X., Hua, X., Sun, M., Xu, X. <strong>Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice.</strong> Genes Brain Behav. 16: 296-307, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27621227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27621227</a>] [<a href="https://doi.org/10.1111/gbb.12339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27621227">Wang et al. (2017)</a> found that Zfp462 -/- mice underwent prenatal death. Zfp462 +/- mice showed reduced Zfp462 expression and delayed postnatal development, including brain development, compared with wildtype. Protein expression of Pbx1 and Hoxb8 was decreased in Zfp462 +/- mice. Zfp462 +/- mice exhibited anxiety-like behaviors with excessive self-grooming, which could be attenuated by treatment with the anti-anxiety drug imipramine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27621227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1060499549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1060499549;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1060499549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1060499549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4-affected members of a 4-generation family (family 1) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#5" class="mim-tip-reference" title="Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P. <strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong> Europ. J. Hum. Genet. 25: 946-951, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28513610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28513610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28513610[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2017.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28513610">Weiss et al. (2017)</a> identified a heterozygous c.3787C-T transition (c.3787C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in an arg1263-to-ter (R1263X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, with evidence of variable expressivity. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28513610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1060499550 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1060499550;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1060499550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1060499550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000451535 OR RCV000853086 OR RCV001008082" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000451535, RCV000853086, RCV001008082" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000451535...</a>
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<p>In a 2-year-old boy (patient 2) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>) <a href="#5" class="mim-tip-reference" title="Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P. <strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong> Europ. J. Hum. Genet. 25: 946-951, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28513610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28513610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28513610[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2017.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28513610">Weiss et al. (2017)</a> identified a de novo heterozygous c.2979_2980delinsA mutation (c.2979_2980delinsA, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Val994TrpfsTer147). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28513610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1588073071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588073071;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1588073071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1588073071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 9-year-old boy (patient 6) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#5" class="mim-tip-reference" title="Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P. <strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong> Europ. J. Hum. Genet. 25: 946-951, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28513610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28513610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28513610[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2017.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28513610">Weiss et al. (2017)</a> identified a de novo heterozygous 1-bp deletion (c.5145delC, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Tyr1716ThrfsTer28). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28513610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1588067098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588067098;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1588067098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1588067098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 10-year-old boy (patient 2) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al. (2019)</a> identified a de novo heterozygous 1-bp deletion (c.2542delT) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Cys848ValfsTer66). The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1588062809 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588062809;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1588062809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1588062809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000853089 OR RCV003229869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000853089, RCV003229869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000853089...</a>
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<p>In a 14-year-old girl (patient 5) of Latin American descent with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al. (2019)</a> identified a heterozygous c.763C-T transition (c.763C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in an arg255-to-ter (R255X) substitution. The mutation was inherited from her father who had milder but similar features and required surgery for ptosis. The mutation was found by whole-genome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1588063241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588063241;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1588063241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1588063241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 2-year-old boy (patient 8) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al. (2019)</a> identified a de novo heterozygous 1-bp duplication (c.882dupC, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Ser295GlnfsTer64). The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 WEISS-KRUSZKA SYNDROME</strong>
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</span>
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</h4>
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ZNF462, GLN1389TER
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1588070867 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588070867;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1588070867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1588070867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000853091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000853091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000853091</a>
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</span>
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<span class="mim-text-font">
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<p>In a 15-year-old boy (patient 9) with Weiss-Kruszka syndrome (WSKA; <a href="/entry/618619">618619</a>), <a href="#2" class="mim-tip-reference" title="Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others. <strong>Phenotype delineation of ZNF462 related syndrome.</strong> Am. J. Med. Genet. 179: 2075-2082, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31361404">Kruszka et al. (2019)</a> identified a de novo heterozygous c.4165C-T transition (c.4165C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a gln1389-to-ter (Q1389X) substitution. The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Hartz2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/27/2017.
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<a id="2" class="mim-anchor"></a>
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<a id="Kruszka2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others.
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<strong>Phenotype delineation of ZNF462 related syndrome.</strong>
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Am. J. Med. Genet. 179: 2075-2082, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31361404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31361404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31361404[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31361404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61306" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Nagase2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 8: 85-95, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Wang2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, B., Zheng, Y., Shi, H., Du, X., Zhang, Y., Wei, B., Luo, M., Wang, H., Wu, X., Hua, X., Sun, M., Xu, X.
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<strong>Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice.</strong>
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Genes Brain Behav. 16: 296-307, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27621227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27621227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27621227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/gbb.12339" target="_blank">Full Text</a>]
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Weiss2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P.
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<strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong>
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Europ. J. Hum. Genet. 25: 946-951, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28513610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28513610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28513610[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28513610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2017.86" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 11/04/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/10/2019
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 02/27/2017
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 11/04/2022
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<span class="mim-text-font">
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carol : 10/14/2019<br>carol : 10/11/2019<br>ckniffin : 10/10/2019<br>mgross : 02/27/2017
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<span class="mim-font">
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<strong>*</strong> 617371
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<h3>
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<span class="mim-font">
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ZINC FINGER PROTEIN 462; ZNF462
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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KIAA1803
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZNF462</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1179283004;
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<strong>
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<em>
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Cytogenetic location: 9q31.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:106,860,158-107,013,634 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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9q31.2
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<td>
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<span class="mim-font">
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Weiss-Kruszka syndrome
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</td>
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<span class="mim-font">
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618619
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ZNF462 gene encodes a transcription factor that is believed to have an important role in embryonic development and chromatin remodeling (summary by Kruszka et al., 2019). </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated fetal human brain cDNA library, Nagase et al. (2001) cloned ZNF462, which they designated KIAA1803. The deduced 1,299-amino acid protein has 9 C2H2 zinc finger motifs. RT-PCR ELISA detected KIAA1803 in all adult and fetal tissues and specific adult brain regions examined. </p><p>By Western blot analysis, Wang et al. (2017) showed that Zfp462 was expressed in mouse heart, liver, lung, kidney, muscle, and whole brain. Highest expression was in brain, and Zfp462 expression was more abundant in cortex and hippocampus than other brain regions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2017) mapped the ZNF462 gene to chromosome 9q31.2 based on an alignment of the ZNF462 sequence (GenBank AL359561) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By immunoprecipitation analysis, Wang et al. (2017) showed that Zfp462 interacted with Pbx1 (176310), a cofactor of Hoxb8 (142963), in mouse brain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4-affected members of a 4-generation family (family 1) with Weiss-Kruszka syndrome (WSKA; 618619), Weiss et al. (2017) identified a heterozygous nonsense mutation in the ZNF462 gene (R1263X; 617371.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, with evidence of variable expressivity. Three additional unrelated patients with a similar phenotype were found to carry de novo heterozygous loss-of-function mutations in the ZNF462 gene (see, e.g., 617371.0002-617371.0003). Functional studies of the variants and studies of patient cells were not performed, but all variants were predicted to result in a loss of function and haploinsufficiency. The authors noted that the ZNF462 gene is highly conserved in most mammals and is intolerant of loss-of-function variants based on databases of genetic variation. </p><p>In 14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function mutations in the ZNF462 gene (see, e.g., 617371.0004-617371.0007). The patients were diagnosed by whole-exome or whole-genome sequencing in multiple research and commercial labs, and 9 were found through GeneMatcher. Most of the mutations occurred de novo, but there was one instance of paternal transmission from a mildly affected father and another instance of maternal transmission from an unaffected mother who was mosaic for the mutation. Most of the mutations occurred in exon 3, which makes up 54% of the coding region. Functional studies of the variants and studies of patient cells were not performed, but all variants were predicted to result in ZNF462 haploinsufficiency. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (2017) found that Zfp462 -/- mice underwent prenatal death. Zfp462 +/- mice showed reduced Zfp462 expression and delayed postnatal development, including brain development, compared with wildtype. Protein expression of Pbx1 and Hoxb8 was decreased in Zfp462 +/- mice. Zfp462 +/- mice exhibited anxiety-like behaviors with excessive self-grooming, which could be attenuated by treatment with the anti-anxiety drug imipramine. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 WEISS-KRUSZKA SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ZNF462, ARG1263TER
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<br />
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SNP: rs1060499549,
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ClinVar: RCV000449793, RCV000853085
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4-affected members of a 4-generation family (family 1) with Weiss-Kruszka syndrome (WSKA; 618619), Weiss et al. (2017) identified a heterozygous c.3787C-T transition (c.3787C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in an arg1263-to-ter (R1263X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, with evidence of variable expressivity. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 WEISS-KRUSZKA SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ZNF462, c.2979_2980delinsA
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<br />
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SNP: rs1060499550,
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ClinVar: RCV000451535, RCV000853086, RCV001008082
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 2-year-old boy (patient 2) with Weiss-Kruszka syndrome (WSKA; 618619) Weiss et al. (2017) identified a de novo heterozygous c.2979_2980delinsA mutation (c.2979_2980delinsA, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Val994TrpfsTer147). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in a loss of function and haploinsufficiency. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 WEISS-KRUSZKA SYNDROME</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
|
ZNF462, 1-BP DEL, 5145C
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<br />
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SNP: rs1588073071,
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|
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ClinVar: RCV000853087
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old boy (patient 6) with Weiss-Kruszka syndrome (WSKA; 618619), Weiss et al. (2017) identified a de novo heterozygous 1-bp deletion (c.5145delC, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Tyr1716ThrfsTer28). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 WEISS-KRUSZKA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF462, 1-BP DEL, 2542T
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|
|
<br />
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|
|
SNP: rs1588067098,
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|
|
|
|
|
|
|
ClinVar: RCV000853088
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old boy (patient 2) with Weiss-Kruszka syndrome (WSKA; 618619), Kruszka et al. (2019) identified a de novo heterozygous 1-bp deletion (c.2542delT) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Cys848ValfsTer66). The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 WEISS-KRUSZKA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF462, ARG255TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1588062809,
|
|
|
|
|
|
|
|
ClinVar: RCV000853089, RCV003229869
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old girl (patient 5) of Latin American descent with Weiss-Kruszka syndrome (WSKA; 618619), Kruszka et al. (2019) identified a heterozygous c.763C-T transition (c.763C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in an arg255-to-ter (R255X) substitution. The mutation was inherited from her father who had milder but similar features and required surgery for ptosis. The mutation was found by whole-genome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 WEISS-KRUSZKA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF462, 1-BP DUP, 882C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1588063241,
|
|
|
|
|
|
|
|
ClinVar: RCV000853090, RCV001008948
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old boy (patient 8) with Weiss-Kruszka syndrome (WSKA; 618619), Kruszka et al. (2019) identified a de novo heterozygous 1-bp duplication (c.882dupC, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a frameshift and premature termination (Ser295GlnfsTer64). The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 WEISS-KRUSZKA SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF462, GLN1389TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1588070867,
|
|
|
|
|
|
|
|
ClinVar: RCV000853091
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-year-old boy (patient 9) with Weiss-Kruszka syndrome (WSKA; 618619), Kruszka et al. (2019) identified a de novo heterozygous c.4165C-T transition (c.4165C-T, NM_021224.5) in exon 3 of the ZNF462 gene, resulting in a gln1389-to-ter (Q1389X) substitution. The mutation was found by whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
|
<div>
|
|
<ol>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/27/2017.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kruszka, P., Hu, T., Hong, S., Signer, R., Cogne, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., and 20 others.
|
|
<strong>Phenotype delineation of ZNF462 related syndrome.</strong>
|
|
Am. J. Med. Genet. 179: 2075-2082, 2019.
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|
[PubMed: 31361404]
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[Full Text: https://doi.org/10.1002/ajmg.a.61306]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 8: 85-95, 2001.
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[PubMed: 11347906]
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[Full Text: https://doi.org/10.1093/dnares/8.2.85]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Wang, B., Zheng, Y., Shi, H., Du, X., Zhang, Y., Wei, B., Luo, M., Wang, H., Wu, X., Hua, X., Sun, M., Xu, X.
|
|
<strong>Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice.</strong>
|
|
Genes Brain Behav. 16: 296-307, 2017.
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|
|
[PubMed: 27621227]
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[Full Text: https://doi.org/10.1111/gbb.12339]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., DDD Study, Anderlid, B.-M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M., Kruszka, P.
|
|
<strong>Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.</strong>
|
|
Europ. J. Hum. Genet. 25: 946-951, 2017.
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|
|
[PubMed: 28513610]
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[Full Text: https://doi.org/10.1038/ejhg.2017.86]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 11/04/2022<br>Cassandra L. Kniffin - updated : 10/10/2019
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz : 02/27/2017
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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