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- *615068 - ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5
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- OMIM
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<p>
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<span class="h4">*615068</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615068">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000152223;t=ENST00000282041" 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=57724" 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=615068" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</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=ENSG00000152223;t=ENST00000282041" 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_001410858,NM_001410859,NM_020964,XM_011526122,XM_017025889,XM_017025891,XM_047437698,XM_047437699,XM_047437700,XM_047437701,XM_047437703,XM_047437704,XM_047437705,XM_047437706,XM_047437707,XM_047437708,XM_047437709,XM_047437710,XM_047437711,XM_047437712,XM_047437713" 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_020964" 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=615068" 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/EPG5" 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/10047341,10435867,13093783,13277572,93204865,119621870,123093947,158705892,211830706,767999088,1034604451,1034604455,2217317322,2217317324,2217317327,2217317330,2217317334,2217317336,2217317338,2217317341,2217317344,2217317346,2217317348,2217317350,2217317352,2217317354,2217317356,2287478767,2287478827,2462561048,2462561050,2462561052,2462561054,2462561056,2462561059,2462561061,2462561063,2462561066,2462561068,2462561070,2462561072,2462561074,2462561076,2462561078,2462561080,2462561082,2462561084" 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/Q9HCE0" 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=57724" 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=ENSG00000152223;t=ENST00000282041" 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=EPG5" 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=EPG5" 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+57724" 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/EPG5" 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:57724" 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/57724" 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=chr18&hgg_gene=ENST00000282041.11&hgg_start=45800581&hgg_end=45967329&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/genes/HGNC:29331" 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/epg5" 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=615068[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 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=615068[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/EPG5/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/ENSG00000152223" 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=EPG5" 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=EPG5" 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=EPG5" 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=EPG5&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/PA134941500" 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:29331" 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/FBgn0038651.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:1918673" 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/EPG5#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:1918673" 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/57724/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=57724" 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://wormbase.org/db/gene/gene?name=WBGene00016968;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070705-307" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57724" 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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<div><a href="https://reactome.org/content/query?q=EPG5&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> 719824001<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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615068
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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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ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5
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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>
|
|
<span class="mim-font">
|
|
ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF<br />
|
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KIAA1632<br />
|
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HEEW1
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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=EPG5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EPG5</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/18/153?start=-3&limit=10&highlight=153">18q12.3-q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:45800581-45967329&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'})">18:45,800,581-45,967,329</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/153?start=-3&limit=10&highlight=153">
|
|
18q12.3-q21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Vici syndrome
|
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/242840"> 242840 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/615068" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615068" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>EPG5 is the human homolog of the C. elegans epg5 gene, which encodes a protein with a key role in the autophagy pathway. Autophagy is a highly conserved lysosomal degradation pathway with fundamental roles in cellular homeostasis, embryonic development, and muscle remodeling (summary by <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> cloned EPG5, which they designated KIAA1632. The deduced protein contains 1,457 amino acids. RT-PCR ELISA detected robust EPG5 expression in all adult and fetal tissues examined, with highest expression in adult ovary and whole brain and in most specific adult brain regions examined. EPG5 expression was lower in fetal brain than in adult brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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="#4" class="mim-tip-reference" title="Halama, N., Grauling-Halama, S. A., Beder, A., Jager, D. <strong>Comparative integromics on the breast cancer-associated gene KIAA1632: clues to cancer antigen domain.</strong> Int. J. Oncology 31: 205-210, 2007."None>Halama et al. (2007)</a> determined that the full-length EPG5 protein contains 2,579 amino acids. They identified orthologs of EPG5 in mammals, fish, flies, and worms.</p>
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<p>By PCR of a human-rodent hybrid panel, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> mapped the EPG5 gene to chromosome 18. <a href="#4" class="mim-tip-reference" title="Halama, N., Grauling-Halama, S. A., Beder, A., Jager, D. <strong>Comparative integromics on the breast cancer-associated gene KIAA1632: clues to cancer antigen domain.</strong> Int. J. Oncology 31: 205-210, 2007."None>Halama et al. (2007)</a> mapped the EPG5 gene to chromosome 18q12.3-q21.1 by genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 16 patients from 13 unrelated families with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>), <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a> identified homozygous or compound heterozygous mutations in the EPG5 gene (see, e.g., <a href="#0001">615068.0001</a>-<a href="#0005">615068.0005</a>). All of the mutations were truncating or splice site mutations, except for 2 that were missense mutations. The first mutations were identified by exome sequencing of 4 patients from 3 families, and the rest of the mutations were identified by screening of the EPG5 gene in 12 additional families. Two families with the disorder did not have EPG5 mutations, suggesting genetic heterogeneity. Vici syndrome is a rare congenital multisystem disorder characterized by profound psychomotor retardation, agenesis of the corpus callosum, pigmentary defects, cataracts, progressive cardiomyopathy, myopathy, and variable immunodeficiency. The molecular studies suggested that Vici syndrome results from defective autophagy. Patient skeletal muscle tissue showed fiber-type disproportion with type 1 atrophy and numerous vacuole-like areas. Immunofluorescence studies of skeletal muscle from 2 patients showed upregulation of the sarcomere-associated autophagy proteins SQSTM1 (p62) (<a href="/entry/601530">601530</a>) and NBR1 (<a href="/entry/166945">166945</a>) with numerous puncta, indicating accumulation of autophagosomes in EPG5-deficient cells. Treatment of patient and control cells with autophagy inducers and inhibitors suggested that patient cells had a severe deficit in autophagosomal clearance and impaired fusion to lysosomes. The findings were consistent with histopathologic features of defective autophagy, including storage of abnormal material and secondary mitochondrial abnormalities in skeletal muscle, as well as multisystem defects in the heart, immune system, skin pigmentation, and central nervous system, implicating defective autophagy in various tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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 a male infant, born of consanguineous Iranian parents, with Vici syndrome, <a href="#3" class="mim-tip-reference" title="Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. <strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong> Am. J. Med. Genet. 164A: 3170-3175, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25331754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25331754</a>] [<a href="https://doi.org/10.1002/ajmg.a.36772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25331754">Ehmke et al. (2014)</a> identified a homozygous truncating mutation in the penultimate exon (exon 43) of the EPG5 gene (R2483X; <a href="#0006">615068.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome, <a href="#5" class="mim-tip-reference" title="Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N. <strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong> Am. J. Med. Genet. 173A: 706-711, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28168853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28168853</a>] [<a href="https://doi.org/10.1002/ajmg.a.38061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28168853">Maillard et al. (2017)</a> identified compound heterozygosity for a missense (G1336E; <a href="#0007">615068.0007</a>) and a frameshift (<a href="#0008">615068.0008</a>) mutation in the EPG5 gene. Each parent carried one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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="Zhao, Y. G., Zhao, H., Sun, H., Zhang, H. <strong>Role of Epg5 in selective neurodegeneration and Vici syndrome.</strong> Autophagy 9: 1258-1262, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23674064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23674064</a>] [<a href="https://doi.org/10.4161/auto.24856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23674064">Zhao et al. (2013)</a> found that Epg5-null mice developed progressive neurologic symptoms with hind limb paralysis around 4 months of age, resulting in death at 10 to 12 months. Autophagy flux was impaired, resulting in the accumulation of SQSTM1 aggregates in only certain neuronal populations in the central nervous system, including anterior horn cells of the spinal cord but not Purkinje cells in the cerebellum. Mutant mice also had severe muscle atrophy and muscle denervation, reminiscent of amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>). The mice showed only some features of Vici syndrome, including thin corpus callosum and muscle atrophy, but other core features, such as growth retardation, dysmorphic facial features, cataract, hypopigmentation, and immunodeficiency, were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23674064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 sibs with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>), originally reported by <a href="#2" class="mim-tip-reference" title="Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M. <strong>Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.</strong> Am. J. Med. Genet. 29: 1-8, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3344762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3344762</a>] [<a href="https://doi.org/10.1002/ajmg.1320290102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3344762">Dionisi Vici et al. (1988)</a>, <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a> identified compound heterozygosity for 2 mutations in the EPG5 gene: a 4588C-T transition, resulting in a gln1530-to-ter (Q1530X) substitution, and a 1-bp duplication (5704dupT), resulting in a frameshift and premature termination (Tyr1902LeufsTer2; <a href="#0002">615068.0002</a>). Both patients died by age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3344762+23222957" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033115" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033115" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033115</a>
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<p>For discussion of the 1-bp duplication in the EPG5 gene (5704dupT) that was found in 2 sibs with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>) by <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a>, see <a href="#0001">615068.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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"><span class="text-primary">●</span> rs587776940 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776940;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/rs587776940?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=rs587776940" 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=rs587776940" 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=RCV000033116 OR RCV003952387" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033116, RCV003952387" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033116...</a>
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<p>In 2 sibs, born of consanguineous parents, with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>), <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a> identified a homozygous 3481C-T transition in the EPG5 gene, resulting in an arg1161-to-ter (R1161X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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>.0004 VICI 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">rs587776941 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776941;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=rs587776941" 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=rs587776941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033117" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033117" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033117</a>
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<p>In 2 sibs, born of consanguineous parents, with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>), <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a> identified compound heterozygosity for 2 nonsense mutations in the EPG5 gene: a 2575G-T transversion resulting in a glu859-to-ter (E859X) substitution, and a 6232C-T transition resulting in an arg2078-to-ter (R2078X; <a href="#0005">615068.0005</a>) substitution. Both patients died at age 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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="0005" class="mim-anchor"></a>
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<strong>.0005 VICI 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"><span class="text-primary">●</span> rs587776942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776942;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/rs587776942?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=rs587776942" 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=rs587776942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033118 OR RCV004700299" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033118, RCV004700299" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033118...</a>
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<p>For discussion of the arg2078-to-ter (R2078X) mutation in the EPG5 gene that was found in compound heterozygous state in 2 sibs with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>) by <a href="#1" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. <strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong> Nature Genet. 45: 83-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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/ng.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222957">Cullup et al. (2013)</a>, see <a href="#0004">615068.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 VICI SYNDROME</strong>
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</h4>
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</div>
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EPG5, ARG2483TER
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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> rs863225064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225064;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/rs863225064?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=rs863225064" 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=rs863225064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000201265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201265</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a male infant, born of consanguineous Iranian parents, with Vici syndrome (VICIS; <a href="/entry/242840">242840</a>), <a href="#3" class="mim-tip-reference" title="Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. <strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong> Am. J. Med. Genet. 164A: 3170-3175, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25331754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25331754</a>] [<a href="https://doi.org/10.1002/ajmg.a.36772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25331754">Ehmke et al. (2014)</a> identified a homozygous c.7447C-T transition (c.7447C-T, NM_020964.2) in the penultimate exon (exon 43) of the EPG5 gene, resulting in an arg2483-to-ter (R2483X) substitution. The mutation was predicted to result in nonsense-mediated mRNA decay, but functional studies and studies on patient cells were not performed. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" 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 VICI 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">rs1085308061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1085308061;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=rs1085308061" 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=rs1085308061" 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=RCV000490629" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000490629" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000490629</a>
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<p>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome (VICIS; 242840), <a href="#5" class="mim-tip-reference" title="Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N. <strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong> Am. J. Med. Genet. 173A: 706-711, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28168853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28168853</a>] [<a href="https://doi.org/10.1002/ajmg.a.38061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28168853">Maillard et al. (2017)</a> identified compound heterozygosity for mutations in the EPG5 gene: a c.4007G-A transition (c.4007G-A, NM_020964.2), resulting in a gly1336-to-glu (G1336E) substitution, and a 1-bp insertion (c.2352_2353insG), resulting in a frameshift and premature termination (Ala785GlyfsTer20; <a href="#0008">615068.0008</a>). The missense mutation was inherited from the mother and the frameshift mutation from the father. Neither mutation was found in the dbSNP, Exome Sequencing Project, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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>.0008 VICI 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">rs1085308062 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1085308062;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=rs1085308062" 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=rs1085308062" 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=RCV000490632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000490632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000490632</a>
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<p>For discussion of the 1-bp insertion (c.2352_2353insG, NM_020964.2) in the EPG5 gene, resulting in a frameshift and a premature stop codon (Ala785GlyfsTer20), that was found in a girl with Vici syndrome (VICIS; 242840) by <a href="#5" class="mim-tip-reference" title="Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N. <strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong> Am. J. Med. Genet. 173A: 706-711, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28168853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28168853</a>] [<a href="https://doi.org/10.1002/ajmg.a.38061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28168853">Maillard et al. (2017)</a>, see <a href="#0007">615068.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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>REFERENCES</strong>
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<a id="Cullup2013" class="mim-anchor"></a>
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Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others.
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<strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong>
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Nature Genet. 45: 83-87, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[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=23222957" 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/ng.2497" target="_blank">Full Text</a>]
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<a id="Dionisi Vici1988" class="mim-anchor"></a>
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Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M.
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<strong>Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.</strong>
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Am. J. Med. Genet. 29: 1-8, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3344762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3344762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3344762" 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.1320290102" target="_blank">Full Text</a>]
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<a id="Ehmke2014" class="mim-anchor"></a>
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Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N.
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<strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong>
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Am. J. Med. Genet. 164A: 3170-3175, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25331754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25331754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" 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.36772" target="_blank">Full Text</a>]
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Halama, N., Grauling-Halama, S. A., Beder, A., Jager, D.
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<strong>Comparative integromics on the breast cancer-associated gene KIAA1632: clues to cancer antigen domain.</strong>
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Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N.
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<strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong>
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Am. J. Med. Genet. 173A: 706-711, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28168853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28168853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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.38061" target="_blank">Full Text</a>]
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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 273-281, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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/7.4.271" target="_blank">Full Text</a>]
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Zhao, Y. G., Zhao, H., Sun, H., Zhang, H.
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<strong>Role of Epg5 in selective neurodegeneration and Vici syndrome.</strong>
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Autophagy 9: 1258-1262, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23674064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23674064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23674064" 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/10.4161/auto.24856" target="_blank">Full Text</a>]
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Michael Muriello - updated : 06/02/2017
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Cassandra L. Kniffin - updated : 10/21/2015<br>Cassandra L. Kniffin - updated : 2/11/2013
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/18/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 12/22/2017<br>carol : 06/03/2017<br>carol : 06/02/2017<br>carol : 10/23/2015<br>ckniffin : 10/21/2015<br>alopez : 8/10/2015<br>alopez : 7/22/2015<br>mcolton : 6/26/2015<br>carol : 2/14/2013<br>ckniffin : 2/11/2013<br>mgross : 2/5/2013
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 615068
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5
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</span>
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</h3>
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<br />
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<div >
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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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ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF<br />
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KIAA1632<br />
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HEEW1
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</span>
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EPG5</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 719824001;
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</span>
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</p>
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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: 18q12.3-q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:45,800,581-45,967,329 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<td rowspan="1">
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<span class="mim-font">
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18q12.3-q21.1
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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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Vici 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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242840
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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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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3
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</td>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>EPG5 is the human homolog of the C. elegans epg5 gene, which encodes a protein with a key role in the autophagy pathway. Autophagy is a highly conserved lysosomal degradation pathway with fundamental roles in cellular homeostasis, embryonic development, and muscle remodeling (summary by Cullup et al., 2013). </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned EPG5, which they designated KIAA1632. The deduced protein contains 1,457 amino acids. RT-PCR ELISA detected robust EPG5 expression in all adult and fetal tissues examined, with highest expression in adult ovary and whole brain and in most specific adult brain regions examined. EPG5 expression was lower in fetal brain than in adult brain. </p><p>Halama et al. (2007) determined that the full-length EPG5 protein contains 2,579 amino acids. They identified orthologs of EPG5 in mammals, fish, flies, and worms.</p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Halama et al. (2007) determined that the EPG5 gene contains 44 exons.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR of a human-rodent hybrid panel, Nagase et al. (2000) mapped the EPG5 gene to chromosome 18. Halama et al. (2007) mapped the EPG5 gene to chromosome 18q12.3-q21.1 by genomic sequence analysis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 16 patients from 13 unrelated families with Vici syndrome (VICIS; 242840), Cullup et al. (2013) identified homozygous or compound heterozygous mutations in the EPG5 gene (see, e.g., 615068.0001-615068.0005). All of the mutations were truncating or splice site mutations, except for 2 that were missense mutations. The first mutations were identified by exome sequencing of 4 patients from 3 families, and the rest of the mutations were identified by screening of the EPG5 gene in 12 additional families. Two families with the disorder did not have EPG5 mutations, suggesting genetic heterogeneity. Vici syndrome is a rare congenital multisystem disorder characterized by profound psychomotor retardation, agenesis of the corpus callosum, pigmentary defects, cataracts, progressive cardiomyopathy, myopathy, and variable immunodeficiency. The molecular studies suggested that Vici syndrome results from defective autophagy. Patient skeletal muscle tissue showed fiber-type disproportion with type 1 atrophy and numerous vacuole-like areas. Immunofluorescence studies of skeletal muscle from 2 patients showed upregulation of the sarcomere-associated autophagy proteins SQSTM1 (p62) (601530) and NBR1 (166945) with numerous puncta, indicating accumulation of autophagosomes in EPG5-deficient cells. Treatment of patient and control cells with autophagy inducers and inhibitors suggested that patient cells had a severe deficit in autophagosomal clearance and impaired fusion to lysosomes. The findings were consistent with histopathologic features of defective autophagy, including storage of abnormal material and secondary mitochondrial abnormalities in skeletal muscle, as well as multisystem defects in the heart, immune system, skin pigmentation, and central nervous system, implicating defective autophagy in various tissues. </p><p>In a male infant, born of consanguineous Iranian parents, with Vici syndrome, Ehmke et al. (2014) identified a homozygous truncating mutation in the penultimate exon (exon 43) of the EPG5 gene (R2483X; 615068.0006). </p><p>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome, Maillard et al. (2017) identified compound heterozygosity for a missense (G1336E; 615068.0007) and a frameshift (615068.0008) mutation in the EPG5 gene. Each parent carried one of the mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhao et al. (2013) found that Epg5-null mice developed progressive neurologic symptoms with hind limb paralysis around 4 months of age, resulting in death at 10 to 12 months. Autophagy flux was impaired, resulting in the accumulation of SQSTM1 aggregates in only certain neuronal populations in the central nervous system, including anterior horn cells of the spinal cord but not Purkinje cells in the cerebellum. Mutant mice also had severe muscle atrophy and muscle denervation, reminiscent of amyotrophic lateral sclerosis (ALS; 105400). The mice showed only some features of Vici syndrome, including thin corpus callosum and muscle atrophy, but other core features, such as growth retardation, dysmorphic facial features, cataract, hypopigmentation, and immunodeficiency, were not present. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 VICI 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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EPG5, GLN1530TER
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<br />
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SNP: rs587776939,
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ClinVar: RCV000033114
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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 2 sibs with Vici syndrome (VICIS; 242840), originally reported by Dionisi Vici et al. (1988), Cullup et al. (2013) identified compound heterozygosity for 2 mutations in the EPG5 gene: a 4588C-T transition, resulting in a gln1530-to-ter (Q1530X) substitution, and a 1-bp duplication (5704dupT), resulting in a frameshift and premature termination (Tyr1902LeufsTer2; 615068.0002). Both patients died by age 3 years. </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>.0002 VICI 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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EPG5, 1-BP DUP, 5704T
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<br />
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ClinVar: RCV000033115
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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>For discussion of the 1-bp duplication in the EPG5 gene (5704dupT) that was found in 2 sibs with Vici syndrome (VICIS; 242840) by Cullup et al. (2013), see 615068.0001. </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>.0003 VICI 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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EPG5, ARG1161TER
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<br />
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SNP: rs587776940,
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gnomAD: rs587776940,
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ClinVar: RCV000033116, RCV003952387
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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 2 sibs, born of consanguineous parents, with Vici syndrome (VICIS; 242840), Cullup et al. (2013) identified a homozygous 3481C-T transition in the EPG5 gene, resulting in an arg1161-to-ter (R1161X) substitution. </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>.0004 VICI 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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EPG5, GLU859TER
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<br />
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SNP: rs587776941,
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ClinVar: RCV000033117
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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 2 sibs, born of consanguineous parents, with Vici syndrome (VICIS; 242840), Cullup et al. (2013) identified compound heterozygosity for 2 nonsense mutations in the EPG5 gene: a 2575G-T transversion resulting in a glu859-to-ter (E859X) substitution, and a 6232C-T transition resulting in an arg2078-to-ter (R2078X; 615068.0005) substitution. Both patients died at age 8 years. </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 VICI 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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EPG5, ARG2078TER
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<br />
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SNP: rs587776942,
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gnomAD: rs587776942,
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ClinVar: RCV000033118, RCV004700299
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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>For discussion of the arg2078-to-ter (R2078X) mutation in the EPG5 gene that was found in compound heterozygous state in 2 sibs with Vici syndrome (VICIS; 242840) by Cullup et al. (2013), see 615068.0004. </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 VICI SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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EPG5, ARG2483TER
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<br />
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SNP: rs863225064,
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gnomAD: rs863225064,
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ClinVar: RCV000201265
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</span>
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<span class="mim-text-font">
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<p>In a male infant, born of consanguineous Iranian parents, with Vici syndrome (VICIS; 242840), Ehmke et al. (2014) identified a homozygous c.7447C-T transition (c.7447C-T, NM_020964.2) in the penultimate exon (exon 43) of the EPG5 gene, resulting in an arg2483-to-ter (R2483X) substitution. The mutation was predicted to result in nonsense-mediated mRNA decay, but functional studies and studies on patient cells were not performed. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </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 VICI SYNDROME</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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EPG5, GLY1336GLU
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<br />
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SNP: rs1085308061,
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ClinVar: RCV000490629
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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>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome (VICIS; 242840), Maillard et al. (2017) identified compound heterozygosity for mutations in the EPG5 gene: a c.4007G-A transition (c.4007G-A, NM_020964.2), resulting in a gly1336-to-glu (G1336E) substitution, and a 1-bp insertion (c.2352_2353insG), resulting in a frameshift and premature termination (Ala785GlyfsTer20; 615068.0008). The missense mutation was inherited from the mother and the frameshift mutation from the father. Neither mutation was found in the dbSNP, Exome Sequencing Project, or ExAC databases. </p>
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</span>
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</div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 VICI 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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EPG5, 1-BP INS, 2352G
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<br />
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SNP: rs1085308062,
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ClinVar: RCV000490632
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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>For discussion of the 1-bp insertion (c.2352_2353insG, NM_020964.2) in the EPG5 gene, resulting in a frameshift and a premature stop codon (Ala785GlyfsTer20), that was found in a girl with Vici syndrome (VICIS; 242840) by Maillard et al. (2017), see 615068.0007. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others.
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<strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong>
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Nature Genet. 45: 83-87, 2013.
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[PubMed: 23222957]
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[Full Text: https://doi.org/10.1038/ng.2497]
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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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Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M.
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<strong>Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.</strong>
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Am. J. Med. Genet. 29: 1-8, 1988.
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[PubMed: 3344762]
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[Full Text: https://doi.org/10.1002/ajmg.1320290102]
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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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Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N.
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|
<strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong>
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Am. J. Med. Genet. 164A: 3170-3175, 2014.
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[PubMed: 25331754]
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[Full Text: https://doi.org/10.1002/ajmg.a.36772]
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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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Halama, N., Grauling-Halama, S. A., Beder, A., Jager, D.
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<strong>Comparative integromics on the breast cancer-associated gene KIAA1632: clues to cancer antigen domain.</strong>
|
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Int. J. Oncology 31: 205-210, 2007.
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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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Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N.
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<strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong>
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Am. J. Med. Genet. 173A: 706-711, 2017.
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[PubMed: 28168853]
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[Full Text: https://doi.org/10.1002/ajmg.a.38061]
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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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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 273-281, 2000.
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[PubMed: 10997877]
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[Full Text: https://doi.org/10.1093/dnares/7.4.271]
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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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Zhao, Y. G., Zhao, H., Sun, H., Zhang, H.
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<strong>Role of Epg5 in selective neurodegeneration and Vici syndrome.</strong>
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Autophagy 9: 1258-1262, 2013.
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[PubMed: 23674064]
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[Full Text: https://doi.org/10.4161/auto.24856]
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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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<span class="mim-text-font">
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Michael Muriello - updated : 06/02/2017<br>Cassandra L. Kniffin - updated : 10/21/2015<br>Cassandra L. Kniffin - updated : 2/11/2013
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Patricia A. Hartz : 2/5/2013
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carol : 09/18/2019<br>carol : 12/22/2017<br>carol : 06/03/2017<br>carol : 06/02/2017<br>carol : 10/23/2015<br>ckniffin : 10/21/2015<br>alopez : 8/10/2015<br>alopez : 7/22/2015<br>mcolton : 6/26/2015<br>carol : 2/14/2013<br>ckniffin : 2/11/2013<br>mgross : 2/5/2013
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