3721 lines
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- *614787 - POGO TRANSPOSABLE ELEMENT-DERIVED PROTEIN WITH ZNF DOMAIN; POGZ
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- OMIM
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<p>
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<span class="h4">*614787</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#cloning">Cloning and Expression</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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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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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/614787">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 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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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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 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=ENSG00000143442;t=ENST00000271715" 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=23126" 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=614787" 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 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>
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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=ENSG00000143442;t=ENST00000271715" 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_001194937,NM_001194938,NM_001410860,NM_015100,NM_145796,NM_207171,XM_005245000,XM_005245005,XM_017000746,XM_017000748,XM_047450064,XM_047450065,XM_047450068,XM_047450069,XM_047450070,XM_047450074" 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_015100" 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=614787" 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>
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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/POGZ" 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/3413884,5101774,19909875,31873816,35505547,46397390,46397394,76879831,119573821,119573822,119573823,119573824,119573825,119573826,143811442,194379630,194389408,194390602,302699211,302699213,302699215,530364383,530364393,1034556837,1380942039,2217265409,2217265411,2217265414,2217265417,2217265419,2217265421,2217265423,2287478731,2462506527,2462506529,2462506531,2462506533,2462506535,2462506537,2462506539,2462506541,2462506543,2462506545,2462506547" 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/Q7Z3K3" 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=23126" 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=ENSG00000143442;t=ENST00000271715" 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=POGZ" 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=POGZ" 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+23126" 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/POGZ" 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:23126" 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/23126" 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=chr1&hgg_gene=ENST00000271715.7&hgg_start=151402724&hgg_end=151459494&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:18801" 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:18801" 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://medlineplus.gov/genetics/gene/pogz" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614787[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=614787[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/POGZ/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/ENSG00000143442" 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=POGZ" 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=POGZ" 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=POGZ" 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=POGZ&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/PA38685" 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:18801" 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://flybase.org/reports/FBgn0033998.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2442117" 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/POGZ#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:2442117" 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/23126/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=23126" 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-040914-76" 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=POGZ&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> 772127009<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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614787
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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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POGO TRANSPOSABLE ELEMENT-DERIVED PROTEIN WITH ZNF DOMAIN; POGZ
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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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KIAA0461
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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=POGZ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">POGZ</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/1/1100?start=-3&limit=10&highlight=1100">1q21.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:151402724-151459494&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'})">1:151,402,724-151,459,494</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">
|
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<a href="/geneMap/1/1100?start=-3&limit=10&highlight=1100">
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1q21.3
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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">
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White-Sutton syndrome
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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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<a href="/entry/616364"> 616364 </a>
|
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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">
|
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<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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/614787" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614787" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#6" class="mim-tip-reference" title="Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O. <strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong> DNA Res. 4: 345-349, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455484</a>] [<a href="https://doi.org/10.1093/dnares/4.5.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455484">Seki et al. (1997)</a> cloned POGZ, which they designated KIAA0461. The deduced protein contains 1,355 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455484" 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>Using the N-terminal activation domains of the transcription factor SP1 (<a href="/entry/189906">189906</a>) to screen a cDNA library originating from SW613-S human colon carcinoma cells, <a href="#3" class="mim-tip-reference" title="Gunther, M., Laithier, M., Brison, O. <strong>A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening.</strong> Molec. Cell. Biochem. 210: 131-142, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976766</a>] [<a href="https://doi.org/10.1023/a:1007177623283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976766">Gunther et al. (2000)</a> cloned a splice variant of KIAA0461 that included an insertion of an additional 53 amino acids near the N terminus. The deduced 1,411-amino acid full-length protein has 9 putative zinc fingers of the C2H2 type and 2 proline-rich regions in a central domain, and small acidic stretches at both the N- and C-termini. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976766" 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><a href="#5" class="mim-tip-reference" title="Nozawa, R.-S., Nagao, K., Masuda, H.-T., Iwasaki, O., Hirota, T., Nozaki, N., Kimura, H., Obuse, C. <strong>Human POGZ modulates dissociation of HP1-alpha from mitotic chromosome arms through Aurora B activation.</strong> Nature Cell Biol. 12: 719-727, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20562864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20562864</a>] [<a href="https://doi.org/10.1038/ncb2075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20562864">Nozawa et al. (2010)</a> found that full-length 1,410-amino acid POGZ contains an irregular zinc finger motif following the central cluster of 9 C2H2-type zinc fingers and that the C-terminal domain contains a centromere protein B (CENPB; <a href="/entry/117140">117140</a>)-like DNA-binding domain and a DDE domain that originated from a transposase encoded by a pogo-like DNA transposon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20562864" 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 yeast 2-hybrid analysis, <a href="#3" class="mim-tip-reference" title="Gunther, M., Laithier, M., Brison, O. <strong>A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening.</strong> Molec. Cell. Biochem. 210: 131-142, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976766</a>] [<a href="https://doi.org/10.1023/a:1007177623283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976766">Gunther et al. (2000)</a> found that the N-terminal half of KIAA0461 interacted with the N-terminal transactivation domains of SP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976766" 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>HP1-alpha (CBX5; <a href="/entry/604478">604478</a>) has an essential role in heterochromatin formation and mitotic progression through interaction of its PxVxL motif with several cell cycle proteins. <a href="#5" class="mim-tip-reference" title="Nozawa, R.-S., Nagao, K., Masuda, H.-T., Iwasaki, O., Hirota, T., Nozaki, N., Kimura, H., Obuse, C. <strong>Human POGZ modulates dissociation of HP1-alpha from mitotic chromosome arms through Aurora B activation.</strong> Nature Cell Biol. 12: 719-727, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20562864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20562864</a>] [<a href="https://doi.org/10.1038/ncb2075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20562864">Nozawa et al. (2010)</a> found that POGZ bound HP1-alpha, but via an atypical zinc finger, called the HP1-binding zinc finger-like (HPZ) domain, rather than the canonical PxVxL motif. POGZ bound HP1-alpha in a competitive manner with PxVxL motif-binding proteins such as TIF1-beta (TRIM28; <a href="/entry/601742">601742</a>) and INCENP (<a href="/entry/604411">604411</a>). Knockdown of POGZ in human cell lines caused mitotic defects, with accelerated mitosis, abnormal chromosome segregation, nuclear fragmentation, and disrupted mitotic HP1-alpha localization and Aurora kinase B (AURKB; <a href="/entry/604970">604970</a>) activity. The defects were similar to those caused by knockdown of Aurora kinase B. Expression of the HPZ domain alone corrected the mitotic defects in POGZ knockdown cells. <a href="#5" class="mim-tip-reference" title="Nozawa, R.-S., Nagao, K., Masuda, H.-T., Iwasaki, O., Hirota, T., Nozaki, N., Kimura, H., Obuse, C. <strong>Human POGZ modulates dissociation of HP1-alpha from mitotic chromosome arms through Aurora B activation.</strong> Nature Cell Biol. 12: 719-727, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20562864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20562864</a>] [<a href="https://doi.org/10.1038/ncb2075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20562864">Nozawa et al. (2010)</a> concluded that the HP1-chromatin interaction is destabilized by binding of POGZ, permitting Aurora kinase B activation and mitotic progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20562864" 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="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 8/27/2012."None>Hartz (2012)</a> mapped the POGZ gene to chromosome 1q21.3 based on an alignment of the POGZ sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB007930" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB007930</a>) with the genomic sequence (GRCh37).</p>
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<p>The <a href="#2" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[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/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a> reported 2 girls with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>) who had heterozygous de novo mutations in the POGZ gene: one was a frameshift (<a href="#0001">614787.0001</a>), and the other was predicted to result in loss of function (<a href="#0002">614787.0002</a>). No functional studies were performed. Both girls had developmental delay and congenital anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25533962" 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 25 unrelated patients with WHSUS, <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> identified de novo heterozygous truncating mutations in the POGZ gene (see, e.g., <a href="#0007">614787.0007</a>-<a href="#0010">614787.0010</a>). Functional studies and studies of patient cells were not performed, but all of the mutations were predicted to disrupt the POGZ gene and result in a loss of function. Three additional patients with autism spectrum disorder were found to have de novo heterozygous missense variants in the POGZ gene; however, functional studies of the variants were not performed. The patients were ascertained from several large cohorts comprising over 17,000 patients with neurodevelopmental disorders who underwent whole-exome, whole-genome, or targeted sequencing. <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> estimated that POGZ mutations may be responsible for up to 0.14% of individuals with autism and/or intellectual disability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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 5 unrelated children with WHSUS, <a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> identified 5 different heterozygous truncating mutations in the POGZ gene (see, e.g., <a href="#0003">614787.0003</a>-<a href="#0005">614787.0005</a>). The mutations were shown to occur de novo in 4 patients; the mutation in the fifth patient was not present in the mother, but paternal DNA was not available. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were all predicted to result in truncated proteins lacking the DNA-binding domain, the DDE domain, and the coiled-coil domain. Functional studies were not performed, but all of the mutations were predicted to result in a loss of function. Two patients carried variants of unknown significance in additional genes (RAI1, <a href="/entry/607642">607642</a> and STIL, <a href="/entry/181590">181590</a>, respectively), which may have contributed to the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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><a href="#1" class="mim-tip-reference" title="Assia Batzir, N., Posey, J. E., Song, X., Coban Akdemir, Z., Rosenfeld, J. A., Brown, C. W., Chen, E., Holtrop, S. G., Mizerik, E., Nieto Moreno, M., Payne, K., Raas-Rothschild, An., Scott, R., Vernon, H. J., Zadeh, N., Baylor-Hopkins Center for Mendelian Genomics, Lupski, J. R., Reid Suton, V. <strong>Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).</strong> Am. J. Med. Genet. 182A: 38-52, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31782611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31782611</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31782611[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.61380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31782611">Assia Batzir et al. (2020)</a> reported 22 individuals, including 2 who were previously reported by the <a href="#2" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[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/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a>, with 21 different heterozygous loss-of-function mutations in the POGZ gene, 15 of which were novel (see, e.g., <a href="#0011">614787.0011</a>); all patients had features consistent with White-Sutton syndrome. Eighteen mutations occurred de novo, 1 was inherited from a mildly affected mother, and parents were not tested in 2 other patients. Of the 21 mutations in this cohort, 19 were truncating (including a large deletion encompassing exons 4-19, 10 nonsense, and 8 insertion/deletions leading to frameshifts) and 2 were splice site mutations. Most of the mutations (57%) occurred within the last exon (exon 19), emphasizing the importance of this exon in POGZ function. Six of the truncating mutations were predicted to undergo nonsense-mediated RNA decay by computational analysis, whereas 13 were predicted to escape nonsense-mediated RNA decay. Review of a large clinical laboratory database showed that 13 out of 9,206 patients (0.14%) who underwent exome sequencing for neurodevelopmental disorders with or without other system involvement had pathogenic POGZ variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25533962+31782611" 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="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> found that knockdown of the POGZ ortholog 'row' in Drosophila resulted in impaired learning in a habituation paradigm. The 'row' gene shares only about 10% identity with human POGZ, but both contain a well-conserved (25% identity) central zinc finger domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>11 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614787[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321667 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321667;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=rs864321667" 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=rs864321667" 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 girl with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), the <a href="#2" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[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/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a> identified a heterozygous de novo 1-bp deletion in the POGZ gene (chr1.151,378,156delG, GRCh37), resulting in frameshift. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25533962" 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><a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> referred to this mutation as c.3354delC in exon 19, resulting in a frameshift and premature termination (Leu1119CysfsTer). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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">rs864321668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321668;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=rs864321668" 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=rs864321668" 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 girl with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), the <a href="#2" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[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/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a> identified a heterozygous de novo A-to-T transversion at chromosome coordinate g.151,378,800 (chr1.151,378,800A-T, GRCh37) in the POGZ gene, predicted to result in a loss of function. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25533962" 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><a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> referred to this mutation as a c.2711T-A transversion in exon 19, resulting in a Leu904-to-ter (L904X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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">rs864321672 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321672;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=rs864321672" 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=rs864321672" 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=RCV000203509 OR RCV000523651" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203509, RCV000523651" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203509...</a>
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<p>In a child with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> identified a de novo heterozygous 1-bp duplication (c.2763dupC, NM_015100.3) in exon 19 of the POGZ gene, resulting in a frameshift and premature termination (Thr922HisfsTer22). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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">rs864321673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321673;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=rs864321673" 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=rs864321673" 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=RCV000203582 OR RCV002510817" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203582, RCV002510817" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203582...</a>
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<p>In a child with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> identified a de novo heterozygous c.833C-G transversion (c.833C-G, NM_015100.3) in exon 6 of the POGZ gene, resulting in a ser278-to-ter (S278X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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">rs864321674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321674;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=rs864321674" 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=rs864321674" 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=RCV000203580 OR RCV000624300 OR RCV003320601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203580, RCV000624300, RCV003320601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203580...</a>
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<p>In a child with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#9" class="mim-tip-reference" title="White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others. <strong>POGZ truncating alleles cause syndromic intellectual disability.</strong> Genome Med. 8: 3, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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/10.1186/s13073-015-0253-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739615">White et al. (2016)</a> identified a de novo heterozygous c.2935C-T transition (c.2935C-T, NM_015100.3) in exon 19 of the POGZ gene, resulting in an arg979-to-ter (R979X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739615" 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">rs869320763 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320763;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=rs869320763" 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=rs869320763" 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=RCV000210305" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210305" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210305</a>
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<p>In a 5-year-old Chinese girl with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#8" class="mim-tip-reference" title="Tan, B., Zou, Y., Zhang, Y., Zhang, R., Ou, J., Shen, Y., Zhao, J., Luo, X., Guo, J., Zeng, L., Hu, Y., Zheng, Y., Pan, Q., Liang, D., Wu, L. <strong>A novel de novo POGZ mutation in a patient with intellectual disability.</strong> J. Hum. Genet. 61: 357-359, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26763879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26763879</a>] [<a href="https://doi.org/10.1038/jhg.2015.156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26763879">Tan et al. (2016)</a> identified a de novo heterozygous 1-bp insertion (c.1277_1278insC) in exon 9 of the POGZ gene, resulting in a frameshift, premature termination, and truncated protein of 427 amino acids. The protein was truncated in the zinc finger domain. The mutation, which was found by next-generation sequencing of the POGZ gene in 764 patients with neurodevelopmental disorders, was confirmed by Sanger sequencing and filtered against the Exome Sequencing Project (ESP6500) and 1000 Genomes Project databases and an in-house exome database of about 500 individuals. Western blot analysis of patient blood cells showed the presence of a truncated protein and decreased levels of the wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26763879" 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 WHITE-SUTTON SYNDROME</strong>
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POGZ, ARG864TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs756659230 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs756659230;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs756659230?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs756659230" 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=rs756659230" 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=RCV000210329 OR RCV002222444" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210329, RCV002222444" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210329...</a>
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<p>In a 5-year-old girl with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> identified a de novo heterozygous c.2590C-T transition (c.2590C-T, NM_015100.3) in the POGZ gene, resulting in an arg864-to-ter (R864X) substitution. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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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POGZ, ARG1001TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869312833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312833;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=rs869312833" 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=rs869312833" 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=RCV000210296 OR RCV000487152" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210296, RCV000487152" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210296...</a>
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<p>In 2 unrelated patients with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> identified a de novo heterozygous c.3001C-T transition (c.3001C-T, NM_015100.3) in the POGZ gene, resulting in an arg1001-to-ter (R1001X) substitution. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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>.0009 WHITE-SUTTON SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869312834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312834;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=rs869312834" 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=rs869312834" 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=RCV000210306" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210306" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210306</a>
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<p>In a 26-year-old man with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> identified a de novo heterozygous c.3847C-T transition (c.3847C-T, NM_015100.3) in the POGZ gene, resulting in a gln1283-to-ter (Q1283X) substitution. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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="0010" class="mim-anchor"></a>
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<strong>.0010 WHITE-SUTTON SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869320764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320764;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=rs869320764" 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=rs869320764" 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=RCV000210322 OR RCV000822183 OR RCV002277570 OR RCV002453755 OR RCV004737335" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210322, RCV000822183, RCV002277570, RCV002453755, RCV004737335" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210322...</a>
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<p>In 2 unrelated patients with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#7" class="mim-tip-reference" title="Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others. <strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong> Am. J. Hum. Genet. 98: 541-552, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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/10.1016/j.ajhg.2016.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26942287">Stessman et al. (2016)</a> identified a de novo heterozygous 1-bp deletion in the POGZ gene, which the authors denoted as c.3456_3457del (c.3456_3457del, NM_015100.3), resulting in a frameshift and premature termination (Glu1154ThrfsTer4). Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26942287" 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>.0011 WHITE-SUTTON SYNDROME</strong>
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POGZ, IVS5, A-C, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2102303238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2102303238;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=rs2102303238" 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=rs2102303238" 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=RCV001843761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843761</a>
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<p>In a patient (PT17) with White-Sutton syndrome (WHSUS; <a href="/entry/616364">616364</a>), <a href="#1" class="mim-tip-reference" title="Assia Batzir, N., Posey, J. E., Song, X., Coban Akdemir, Z., Rosenfeld, J. A., Brown, C. W., Chen, E., Holtrop, S. G., Mizerik, E., Nieto Moreno, M., Payne, K., Raas-Rothschild, An., Scott, R., Vernon, H. J., Zadeh, N., Baylor-Hopkins Center for Mendelian Genomics, Lupski, J. R., Reid Suton, V. <strong>Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).</strong> Am. J. Med. Genet. 182A: 38-52, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31782611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31782611</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31782611[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.61380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31782611">Assia Batzir et al. (2020)</a> identified a de novo heterozygous splice site mutation (c.460-2A-C, NM_015100.3) in intron 5 of the POGZ gene, which was predicted to affect all but one RefSeq-curated transcript of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31782611" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Assia Batzir2020" class="mim-anchor"></a>
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Assia Batzir, N., Posey, J. E., Song, X., Coban Akdemir, Z., Rosenfeld, J. A., Brown, C. W., Chen, E., Holtrop, S. G., Mizerik, E., Nieto Moreno, M., Payne, K., Raas-Rothschild, An., Scott, R., Vernon, H. J., Zadeh, N., Baylor-Hopkins Center for Mendelian Genomics, Lupski, J. R., Reid Suton, V.
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<strong>Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).</strong>
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Am. J. Med. Genet. 182A: 38-52, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31782611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31782611</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31782611[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=31782611" 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.61380" target="_blank">Full Text</a>]
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<a id="{Deciphering Developmental Disorders Study}2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Deciphering Developmental Disorders Study.
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<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
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Nature 519: 223-228, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[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=25533962" 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/nature14135" target="_blank">Full Text</a>]
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<a id="Gunther2000" class="mim-anchor"></a>
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Gunther, M., Laithier, M., Brison, O.
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<strong>A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening.</strong>
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Molec. Cell. Biochem. 210: 131-142, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976766" 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/10.1023/a:1007177623283" target="_blank">Full Text</a>]
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<a id="Hartz2012" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/27/2012.
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Nozawa, R.-S., Nagao, K., Masuda, H.-T., Iwasaki, O., Hirota, T., Nozaki, N., Kimura, H., Obuse, C.
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<strong>Human POGZ modulates dissociation of HP1-alpha from mitotic chromosome arms through Aurora B activation.</strong>
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Nature Cell Biol. 12: 719-727, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20562864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20562864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20562864" 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/ncb2075" target="_blank">Full Text</a>]
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<a id="Seki1997" class="mim-anchor"></a>
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Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O.
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<strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong>
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DNA Res. 4: 345-349, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455484" 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/4.5.345" target="_blank">Full Text</a>]
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Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others.
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<strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong>
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Am. J. Hum. Genet. 98: 541-552, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26942287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26942287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26942287[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=26942287" 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/10.1016/j.ajhg.2016.02.004" target="_blank">Full Text</a>]
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Tan, B., Zou, Y., Zhang, Y., Zhang, R., Ou, J., Shen, Y., Zhao, J., Luo, X., Guo, J., Zeng, L., Hu, Y., Zheng, Y., Pan, Q., Liang, D., Wu, L.
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<strong>A novel de novo POGZ mutation in a patient with intellectual disability.</strong>
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J. Hum. Genet. 61: 357-359, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26763879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26763879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26763879" 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/jhg.2015.156" target="_blank">Full Text</a>]
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White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others.
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<strong>POGZ truncating alleles cause syndromic intellectual disability.</strong>
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Genome Med. 8: 3, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26739615[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=26739615" 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/10.1186/s13073-015-0253-0" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 03/29/2022
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Cassandra L. Kniffin - updated : 3/21/2016<br>Cassandra L. Kniffin - updated : 1/12/2016<br>Ada Hamosh - updated : 5/14/2015
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Creation Date:
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Patricia A. Hartz : 8/28/2012
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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mgross : 09/14/2022
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carol : 03/30/2022<br>carol : 03/29/2022<br>carol : 06/22/2016<br>carol : 3/24/2016<br>carol : 3/23/2016<br>ckniffin : 3/21/2016<br>carol : 1/13/2016<br>carol : 1/13/2016<br>ckniffin : 1/12/2016<br>alopez : 5/14/2015<br>carol : 8/28/2012<br>carol : 8/28/2012
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<strong>*</strong> 614787
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<h3>
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POGO TRANSPOSABLE ELEMENT-DERIVED PROTEIN WITH ZNF DOMAIN; POGZ
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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KIAA0461
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: POGZ</em></strong>
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<strong>SNOMEDCT:</strong> 772127009;
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Cytogenetic location: 1q21.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:151,402,724-151,459,494 </span>
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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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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q21.3
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White-Sutton syndrome
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616364
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Seki et al. (1997) cloned POGZ, which they designated KIAA0461. The deduced protein contains 1,355 amino acids. </p><p>Using the N-terminal activation domains of the transcription factor SP1 (189906) to screen a cDNA library originating from SW613-S human colon carcinoma cells, Gunther et al. (2000) cloned a splice variant of KIAA0461 that included an insertion of an additional 53 amino acids near the N terminus. The deduced 1,411-amino acid full-length protein has 9 putative zinc fingers of the C2H2 type and 2 proline-rich regions in a central domain, and small acidic stretches at both the N- and C-termini. </p><p>Nozawa et al. (2010) found that full-length 1,410-amino acid POGZ contains an irregular zinc finger motif following the central cluster of 9 C2H2-type zinc fingers and that the C-terminal domain contains a centromere protein B (CENPB; 117140)-like DNA-binding domain and a DDE domain that originated from a transposase encoded by a pogo-like DNA transposon. </p>
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<strong>Gene Function</strong>
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<p>By yeast 2-hybrid analysis, Gunther et al. (2000) found that the N-terminal half of KIAA0461 interacted with the N-terminal transactivation domains of SP1. </p><p>HP1-alpha (CBX5; 604478) has an essential role in heterochromatin formation and mitotic progression through interaction of its PxVxL motif with several cell cycle proteins. Nozawa et al. (2010) found that POGZ bound HP1-alpha, but via an atypical zinc finger, called the HP1-binding zinc finger-like (HPZ) domain, rather than the canonical PxVxL motif. POGZ bound HP1-alpha in a competitive manner with PxVxL motif-binding proteins such as TIF1-beta (TRIM28; 601742) and INCENP (604411). Knockdown of POGZ in human cell lines caused mitotic defects, with accelerated mitosis, abnormal chromosome segregation, nuclear fragmentation, and disrupted mitotic HP1-alpha localization and Aurora kinase B (AURKB; 604970) activity. The defects were similar to those caused by knockdown of Aurora kinase B. Expression of the HPZ domain alone corrected the mitotic defects in POGZ knockdown cells. Nozawa et al. (2010) concluded that the HP1-chromatin interaction is destabilized by binding of POGZ, permitting Aurora kinase B activation and mitotic progression. </p>
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<strong>Mapping</strong>
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<p>Hartz (2012) mapped the POGZ gene to chromosome 1q21.3 based on an alignment of the POGZ sequence (GenBank AB007930) with the genomic sequence (GRCh37).</p>
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<strong>Molecular Genetics</strong>
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<p>The Deciphering Developmental Disorders Study (2015) reported 2 girls with White-Sutton syndrome (WHSUS; 616364) who had heterozygous de novo mutations in the POGZ gene: one was a frameshift (614787.0001), and the other was predicted to result in loss of function (614787.0002). No functional studies were performed. Both girls had developmental delay and congenital anomalies. </p><p>In 25 unrelated patients with WHSUS, Stessman et al. (2016) identified de novo heterozygous truncating mutations in the POGZ gene (see, e.g., 614787.0007-614787.0010). Functional studies and studies of patient cells were not performed, but all of the mutations were predicted to disrupt the POGZ gene and result in a loss of function. Three additional patients with autism spectrum disorder were found to have de novo heterozygous missense variants in the POGZ gene; however, functional studies of the variants were not performed. The patients were ascertained from several large cohorts comprising over 17,000 patients with neurodevelopmental disorders who underwent whole-exome, whole-genome, or targeted sequencing. Stessman et al. (2016) estimated that POGZ mutations may be responsible for up to 0.14% of individuals with autism and/or intellectual disability. </p><p>In 5 unrelated children with WHSUS, White et al. (2016) identified 5 different heterozygous truncating mutations in the POGZ gene (see, e.g., 614787.0003-614787.0005). The mutations were shown to occur de novo in 4 patients; the mutation in the fifth patient was not present in the mother, but paternal DNA was not available. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were all predicted to result in truncated proteins lacking the DNA-binding domain, the DDE domain, and the coiled-coil domain. Functional studies were not performed, but all of the mutations were predicted to result in a loss of function. Two patients carried variants of unknown significance in additional genes (RAI1, 607642 and STIL, 181590, respectively), which may have contributed to the phenotype. </p><p>Assia Batzir et al. (2020) reported 22 individuals, including 2 who were previously reported by the Deciphering Developmental Disorders Study (2015), with 21 different heterozygous loss-of-function mutations in the POGZ gene, 15 of which were novel (see, e.g., 614787.0011); all patients had features consistent with White-Sutton syndrome. Eighteen mutations occurred de novo, 1 was inherited from a mildly affected mother, and parents were not tested in 2 other patients. Of the 21 mutations in this cohort, 19 were truncating (including a large deletion encompassing exons 4-19, 10 nonsense, and 8 insertion/deletions leading to frameshifts) and 2 were splice site mutations. Most of the mutations (57%) occurred within the last exon (exon 19), emphasizing the importance of this exon in POGZ function. Six of the truncating mutations were predicted to undergo nonsense-mediated RNA decay by computational analysis, whereas 13 were predicted to escape nonsense-mediated RNA decay. Review of a large clinical laboratory database showed that 13 out of 9,206 patients (0.14%) who underwent exome sequencing for neurodevelopmental disorders with or without other system involvement had pathogenic POGZ variants. </p>
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<strong>Animal Model</strong>
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<p>Stessman et al. (2016) found that knockdown of the POGZ ortholog 'row' in Drosophila resulted in impaired learning in a habituation paradigm. The 'row' gene shares only about 10% identity with human POGZ, but both contain a well-conserved (25% identity) central zinc finger domain. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>11 Selected Examples):</strong>
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<strong>.0001 WHITE-SUTTON SYNDROME</strong>
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POGZ, 1-BP DEL, 3354C
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SNP: rs864321667,
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ClinVar: RCV000170495
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<p>In a girl with White-Sutton syndrome (WHSUS; 616364), the Deciphering Developmental Disorders Study (2015) identified a heterozygous de novo 1-bp deletion in the POGZ gene (chr1.151,378,156delG, GRCh37), resulting in frameshift. No functional studies were performed. </p><p>White et al. (2016) referred to this mutation as c.3354delC in exon 19, resulting in a frameshift and premature termination (Leu1119CysfsTer). </p>
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<strong>.0002 WHITE-SUTTON SYNDROME</strong>
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POGZ, LEU904TER
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SNP: rs864321668,
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ClinVar: RCV000170496
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<p>In a girl with White-Sutton syndrome (WHSUS; 616364), the Deciphering Developmental Disorders Study (2015) identified a heterozygous de novo A-to-T transversion at chromosome coordinate g.151,378,800 (chr1.151,378,800A-T, GRCh37) in the POGZ gene, predicted to result in a loss of function. No functional studies were performed. </p><p>White et al. (2016) referred to this mutation as a c.2711T-A transversion in exon 19, resulting in a Leu904-to-ter (L904X) substitution. </p>
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<strong>.0003 WHITE-SUTTON SYNDROME</strong>
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POGZ, 1-BP DUP, 2763C
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SNP: rs864321672,
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ClinVar: RCV000203509, RCV000523651
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<p>In a child with White-Sutton syndrome (WHSUS; 616364), White et al. (2016) identified a de novo heterozygous 1-bp duplication (c.2763dupC, NM_015100.3) in exon 19 of the POGZ gene, resulting in a frameshift and premature termination (Thr922HisfsTer22). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. </p>
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<strong>.0004 WHITE-SUTTON SYNDROME</strong>
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POGZ, SER278TER
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SNP: rs864321673,
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ClinVar: RCV000203582, RCV002510817
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<span class="mim-text-font">
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<p>In a child with White-Sutton syndrome (WHSUS; 616364), White et al. (2016) identified a de novo heterozygous c.833C-G transversion (c.833C-G, NM_015100.3) in exon 6 of the POGZ gene, resulting in a ser278-to-ter (S278X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. </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">
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<strong>.0005 WHITE-SUTTON 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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POGZ, ARG979TER
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<br />
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SNP: rs864321674,
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ClinVar: RCV000203580, RCV000624300, RCV003320601
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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 a child with White-Sutton syndrome (WHSUS; 616364), White et al. (2016) identified a de novo heterozygous c.2935C-T transition (c.2935C-T, NM_015100.3) in exon 19 of the POGZ gene, resulting in an arg979-to-ter (R979X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in publicly available databases, including the ExAC database. Functional studies were not performed, but the mutation was predicted to result in a loss of function. </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">
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<strong>.0006 WHITE-SUTTON 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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POGZ, 1-BP INS, 1277C
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<br />
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SNP: rs869320763,
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ClinVar: RCV000210305
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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 a 5-year-old Chinese girl with White-Sutton syndrome (WHSUS; 616364), Tan et al. (2016) identified a de novo heterozygous 1-bp insertion (c.1277_1278insC) in exon 9 of the POGZ gene, resulting in a frameshift, premature termination, and truncated protein of 427 amino acids. The protein was truncated in the zinc finger domain. The mutation, which was found by next-generation sequencing of the POGZ gene in 764 patients with neurodevelopmental disorders, was confirmed by Sanger sequencing and filtered against the Exome Sequencing Project (ESP6500) and 1000 Genomes Project databases and an in-house exome database of about 500 individuals. Western blot analysis of patient blood cells showed the presence of a truncated protein and decreased levels of the wildtype protein. </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">
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<strong>.0007 WHITE-SUTTON 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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POGZ, ARG864TER
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<br />
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SNP: rs756659230,
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gnomAD: rs756659230,
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ClinVar: RCV000210329, RCV002222444
|
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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 5-year-old girl with White-Sutton syndrome (WHSUS; 616364), Stessman et al. (2016) identified a de novo heterozygous c.2590C-T transition (c.2590C-T, NM_015100.3) in the POGZ gene, resulting in an arg864-to-ter (R864X) substitution. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</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>.0008 WHITE-SUTTON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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POGZ, ARG1001TER
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<br />
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SNP: rs869312833,
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|
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ClinVar: RCV000210296, RCV000487152
|
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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 2 unrelated patients with White-Sutton syndrome (WHSUS; 616364), Stessman et al. (2016) identified a de novo heterozygous c.3001C-T transition (c.3001C-T, NM_015100.3) in the POGZ gene, resulting in an arg1001-to-ter (R1001X) substitution. Functional studies of the variant and studies of patient cells were not performed. </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>
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|
<span class="mim-font">
|
|
<strong>.0009 WHITE-SUTTON 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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POGZ, GLN1283TER
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|
<br />
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SNP: rs869312834,
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|
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ClinVar: RCV000210306
|
|
|
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|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old man with White-Sutton syndrome (WHSUS; 616364), Stessman et al. (2016) identified a de novo heterozygous c.3847C-T transition (c.3847C-T, NM_015100.3) in the POGZ gene, resulting in a gln1283-to-ter (Q1283X) substitution. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 WHITE-SUTTON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
POGZ, 1-BP DEL, NT3456
|
|
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|
|
<br />
|
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|
|
SNP: rs869320764,
|
|
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|
|
|
|
|
ClinVar: RCV000210322, RCV000822183, RCV002277570, RCV002453755, RCV004737335
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with White-Sutton syndrome (WHSUS; 616364), Stessman et al. (2016) identified a de novo heterozygous 1-bp deletion in the POGZ gene, which the authors denoted as c.3456_3457del (c.3456_3457del, NM_015100.3), resulting in a frameshift and premature termination (Glu1154ThrfsTer4). Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 WHITE-SUTTON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POGZ, IVS5, A-C, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2102303238,
|
|
|
|
|
|
|
|
ClinVar: RCV001843761
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PT17) with White-Sutton syndrome (WHSUS; 616364), Assia Batzir et al. (2020) identified a de novo heterozygous splice site mutation (c.460-2A-C, NM_015100.3) in intron 5 of the POGZ gene, which was predicted to affect all but one RefSeq-curated transcript of the gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
<div>
|
|
<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">
|
|
Assia Batzir, N., Posey, J. E., Song, X., Coban Akdemir, Z., Rosenfeld, J. A., Brown, C. W., Chen, E., Holtrop, S. G., Mizerik, E., Nieto Moreno, M., Payne, K., Raas-Rothschild, An., Scott, R., Vernon, H. J., Zadeh, N., Baylor-Hopkins Center for Mendelian Genomics, Lupski, J. R., Reid Suton, V.
|
|
<strong>Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).</strong>
|
|
Am. J. Med. Genet. 182A: 38-52, 2020.
|
|
|
|
|
|
[PubMed: 31782611]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61380]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deciphering Developmental Disorders Study.
|
|
<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
|
|
Nature 519: 223-228, 2015.
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|
|
|
[PubMed: 25533962]
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[Full Text: https://doi.org/10.1038/nature14135]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gunther, M., Laithier, M., Brison, O.
|
|
<strong>A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening.</strong>
|
|
Molec. Cell. Biochem. 210: 131-142, 2000.
|
|
|
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|
|
[PubMed: 10976766]
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|
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[Full Text: https://doi.org/10.1023/a:1007177623283]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 8/27/2012.
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nozawa, R.-S., Nagao, K., Masuda, H.-T., Iwasaki, O., Hirota, T., Nozaki, N., Kimura, H., Obuse, C.
|
|
<strong>Human POGZ modulates dissociation of HP1-alpha from mitotic chromosome arms through Aurora B activation.</strong>
|
|
Nature Cell Biol. 12: 719-727, 2010.
|
|
|
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|
|
[PubMed: 20562864]
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[Full Text: https://doi.org/10.1038/ncb2075]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O.
|
|
<strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong>
|
|
DNA Res. 4: 345-349, 1997.
|
|
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|
|
|
[PubMed: 9455484]
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[Full Text: https://doi.org/10.1093/dnares/4.5.345]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., van der Burgt, I., and 39 others.
|
|
<strong>Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.</strong>
|
|
Am. J. Hum. Genet. 98: 541-552, 2016.
|
|
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|
|
[PubMed: 26942287]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2016.02.004]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tan, B., Zou, Y., Zhang, Y., Zhang, R., Ou, J., Shen, Y., Zhao, J., Luo, X., Guo, J., Zeng, L., Hu, Y., Zheng, Y., Pan, Q., Liang, D., Wu, L.
|
|
<strong>A novel de novo POGZ mutation in a patient with intellectual disability.</strong>
|
|
J. Hum. Genet. 61: 357-359, 2016.
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|
|
[PubMed: 26763879]
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|
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[Full Text: https://doi.org/10.1038/jhg.2015.156]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., and 19 others.
|
|
<strong>POGZ truncating alleles cause syndromic intellectual disability.</strong>
|
|
Genome Med. 8: 3, 2016. Note: Electronic Article.
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|
|
[PubMed: 26739615]
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|
|
[Full Text: https://doi.org/10.1186/s13073-015-0253-0]
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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">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
|
</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
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Sonja A. Rasmussen - updated : 03/29/2022<br>Cassandra L. Kniffin - updated : 3/21/2016<br>Cassandra L. Kniffin - updated : 1/12/2016<br>Ada Hamosh - updated : 5/14/2015
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|
</span>
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</div>
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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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 : 8/28/2012
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</span>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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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 : 09/14/2022<br>carol : 03/30/2022<br>carol : 03/29/2022<br>carol : 06/22/2016<br>carol : 3/24/2016<br>carol : 3/23/2016<br>ckniffin : 3/21/2016<br>carol : 1/13/2016<br>carol : 1/13/2016<br>ckniffin : 1/12/2016<br>alopez : 5/14/2015<br>carol : 8/28/2012<br>carol : 8/28/2012
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