2966 lines
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Entry
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- *614789 - EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT
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- OMIM
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<p>
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<span class="h4">*614789</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/614789">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=ENSG00000163378;t=ENST00000383701" 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=285203" 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=614789" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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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=ENSG00000163378;t=ENST00000383701" 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_001278689,NM_173654,NR_103826,XM_005264743,XM_011533599,XM_011533600,XM_011533602,XM_011533603,XM_017006204,XM_017006205,XM_017006206,XM_017006207,XM_017006208,XM_017006209,XM_047448000,XM_047448001,XM_047448002,XM_047448003,XM_047448004,XM_047448005,XM_047448006,XM_047448007" 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_001278689" 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=614789" 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/EOGT" 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/20809854,34532598,38173838,39930531,56550366,58036800,74708096,158261735,193786960,194376580,194385256,443496410,522838254,530373683,767922972,767922974,767922978,767922980,1034632696,1034632698,1034632700,1034632702,1034632704,1034632706,2217343449,2217343451,2217343455,2217343457,2217343459,2217343462,2217343464,2217343471,2462589243,2462589245,2462589247,2462589249,2462589251,2462589253,2462589255,2462589257,2462589259,2462589261,2462589263,2462589265,2462589267,2462589269,2462589271,2462589273,2462589275,2462589277,2462589279" 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/Q5NDL2" 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=285203" 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=ENSG00000163378;t=ENST00000383701" 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=EOGT" 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=EOGT" 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+285203" 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/EOGT" 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:285203" 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/285203" 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=chr3&hgg_gene=ENST00000383701.8&hgg_start=68975225&hgg_end=69013684&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://medlineplus.gov/genetics/gene/eogt" 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=614789[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614789[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://gnomad.broadinstitute.org/gene/ENSG00000163378" 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=EOGT" 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=EOGT" 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=EOGT" 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=EOGT&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/PA143485338" 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:28526" 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/FBgn0264672.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:2141669" 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/EOGT#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:2141669" 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/285203/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=285203" 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=WBGene00010386;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-120813-8" 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:285203" 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=EOGT&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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</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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614789
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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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EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EOGT1<br />
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CHROMOSOME 3 OPEN READING FRAME 64; C3ORF64
|
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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=EOGT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EOGT</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/3/448?start=-3&limit=10&highlight=448">3p14.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:68975225-69013684&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'})">3:68,975,225-69,013,684</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/3/448?start=-3&limit=10&highlight=448">
|
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3p14.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Adams-Oliver syndrome 4
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615297"> 615297 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614789" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614789" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
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<p>Protein modification by O-linked-N-acetylglucosamine (O-GlcNAc) regulates intracellular signaling, endocytosis, transcription, and protein stability, and can modulate nutrient sensing. EOGT functions as an O-GlcNAc transferase (<a href="https://enzyme.expasy.org/EC/2.4.1.255" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.255</a>) that modifies threonine residues within epidermal growth factor (EGF; see <a href="/entry/131530">131530</a>)-like repeats (summary by <a href="#2" class="mim-tip-reference" title="Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T. <strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong> Biochem. Biophys. Res. Commun. 419: 14-19, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>] [<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22310717">Sakaidani et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22310717" 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 database analysis using Drosophila Eogt as query, <a href="#2" class="mim-tip-reference" title="Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T. <strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong> Biochem. Biophys. Res. Commun. 419: 14-19, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>] [<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22310717">Sakaidani et al. (2012)</a> identified the mouse, human, and nematode orthologs. Mouse Eogt1 encodes a deduced 527-amino acid protein containing an N-terminal signal peptide and a C-terminal KDEL-like sequence for retention in the endoplasmic reticulum. Northern blot analysis detected variable expression of a major 4.6-kb transcript in all mouse tissues examined, with highest expression in lung and lowest expression in skeletal muscle. <a href="#2" class="mim-tip-reference" title="Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T. <strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong> Biochem. Biophys. Res. Commun. 419: 14-19, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>] [<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22310717">Sakaidani et al. (2012)</a> also identified a minor splice variant that includes the 94-basepair intron 12, resulting in a premature stop codon. The truncated protein is predicted to be inactive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22310717" 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>To determine the developmental expression pattern of Eogt, <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> performed whole-mount in situ hybridization on mouse embryos and observed expression of Eogt at embryonic day (E) 10.5 in the growing edge of the limb buds. At E11.5, Eogt mRNA was enriched in the apical ectodermal ridge of the limbs. By E12.5, the expression of Eogt assumed a digit-condensation pattern in the 4 limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 8/27/2012."None>Hartz (2012)</a> mapped the EOGT gene to chromosome 3p14.1 based on an alignment of the EOGT sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK091089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK091089</a>) with the genomic sequence (GRCh37).</p>
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<p>Using an in vitro assay, <a href="#2" class="mim-tip-reference" title="Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T. <strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong> Biochem. Biophys. Res. Commun. 419: 14-19, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>] [<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22310717">Sakaidani et al. (2012)</a> found that mouse Eogt utilized uridine diphosphate (UDP)-GlcNAc as a sugar donor to transfer GlcNAc to a conserved threonine residue within the EGF-like domain of Notch (see <a href="/entry/190198">190198</a>). Enzyme activity was enhanced in the presence of divalent cations, particularly Mn(2+). In transfected HEK293 cells, the O-GlcNAc moiety was further modified into an elongated glycan capped by N-acetyl-lactosamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22310717" 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 affected individuals from 3 consanguineous Arab families with Adams-Oliver syndrome mapping to chromosome 3 (AOS4; <a href="/entry/615297">615297</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for 2 missense mutations and a 1-bp deletion, respectively (<a href="#0001">614789.0001</a>-<a href="#0003">614789.0003</a>). The variants segregated with disease in the families and were not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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 Turkish boy and his father with AOS4 from a multiconsanguineous family, <a href="#3" class="mim-tip-reference" title="Schroder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W., Zenker, M. <strong>Adams-Oliver syndrome caused by mutations of the EOGT gene.</strong> Am. J. Med. Genet. 179A: 2246-2251, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31368252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31368252</a>] [<a href="https://doi.org/10.1002/ajmg.a.61313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31368252">Schroder et al. (2019)</a> identified a homozygous missense mutation in the EOGT gene (C135Y; <a href="#0004">614789.0004</a>). In a German man with AOS4, they identified a homozygous splicing mutation (<a href="#0005">614789.0005</a>) in the EOGT gene. The man's parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31368252" 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="#2" class="mim-tip-reference" title="Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T. <strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong> Biochem. Biophys. Res. Commun. 419: 14-19, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>] [<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22310717">Sakaidani et al. (2012)</a> found that depletion of Eogt in developing Drosophila wing discs caused cell adhesion defects and resulted in wing blistering in the posterior compartment. The phenotype was completely rescued by expression of mouse Eogt1, indicating conservation of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22310717" 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=614789[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776993 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776993;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=rs587776993" 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=rs587776993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 5-week-old Arab girl with Adams-Oliver syndrome (AOS4; <a href="/entry/615297">615297</a>), who was born of first-cousin parents, <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for a c.620G-C transversion in the EOGT gene, resulting in a trp207-to-ser (W207S) substitution at a highly conserved residue. Her unaffected parents were heterozygous carriers of the mutation, which was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. In addition to cutis aplasia of the scalp and terminal transverse defects of her toes, she had an atrial septal defect (ASD-II), but she had no microphthalmia and neuroimaging was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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">rs587776994 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776994;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=rs587776994" 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=rs587776994" 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=RCV000049242 OR RCV000162168 OR RCV001091100" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049242, RCV000162168, RCV001091100" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049242...</a>
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<p>In a 2.67-year-old Arab boy with Adams-Oliver syndrome (AOS4; <a href="/entry/615297">615297</a>), who was born of consanguineous parents, <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for a 1-bp deletion (c.1074delA) in the EOGT gene, causing a frameshift that resulted in a premature stop codon (Gly359AspfsTer28). The mutation was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. In addition to cutis aplasia of the scalp and terminal transverse defects of the toes that were more pronounced on the right, he had a muscular ventricular septal defect and patent ductus arteriosus, which had resolved. Additional features included left temporal and occipital lobe infarcts of presumed prenatal origin, speech and fine motor delays, and umbilical hernia. <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> stated that using the alternatively spliced NCBI version of EOGT (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=NM_173654.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">NM_173654.1</a>), the mutation would be designated 832-791delA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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> rs587776995 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776995;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/rs587776995?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=rs587776995" 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=rs587776995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected children from a consanguineous Arab kindred with Adams-Oliver syndrome (AOS4; <a href="/entry/615297">615297</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for a c.1130G-A transition in the EOGT gene, resulting in an arg377-to-gln (R377Q) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. The 3 affected individuals had cutis aplasia of the scalp and terminal transverse defects of the toes, but no microphthalmia or cardiac anomalies. The 3-year-old female proband also exhibited cutis marmorata, 6 cafe-au-lait patches on her chest and abdomen, and a small umbilical hernia. <a href="#4" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> stated that using the alternatively spliced NCBI version of EOGT (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=NM_173654.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">NM_173654.1</a>), the mutation would be designated c.878G-A, ARG293GLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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> rs1247059195 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1247059195;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/rs1247059195?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=rs1247059195" 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=rs1247059195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 10-year-old boy with Adams-Oliver syndrome (AOS4; <a href="/entry/615297">615297</a>) from a multiconsanguineous Turkish family, <a href="#3" class="mim-tip-reference" title="Schroder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W., Zenker, M. <strong>Adams-Oliver syndrome caused by mutations of the EOGT gene.</strong> Am. J. Med. Genet. 179A: 2246-2251, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31368252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31368252</a>] [<a href="https://doi.org/10.1002/ajmg.a.61313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31368252">Schroder et al. (2019)</a> identified a homozygous c.404G-A transition (c.404G-A, NM_001278689.1) in the EOGT gene, resulting in a cys135-to-ter (C135Y) substitution at a highly conserved residue. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient's father, who had a hairless, scarred area on his scalp, was also found to be homozygous for the mutation. The variant was present in 1 in 249,292 alleles in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31368252" 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> rs369583084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs369583084;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/rs369583084?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=rs369583084" 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=rs369583084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 24-year-old German man with Adams-Oliver syndrome (AOS4; <a href="/entry/615297">615297</a>), <a href="#3" class="mim-tip-reference" title="Schroder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W., Zenker, M. <strong>Adams-Oliver syndrome caused by mutations of the EOGT gene.</strong> Am. J. Med. Genet. 179A: 2246-2251, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31368252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31368252</a>] [<a href="https://doi.org/10.1002/ajmg.a.61313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31368252">Schroder et al. (2019)</a> identified a homozygous splice site mutation (c.311+1G-T, NM_001278689.1) in the EOGT gene, predicted to lead to abnormal splicing of exon 5. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was present in 6 of 251,330 alleles in the gnomAD database. Functional studies were not performed. A sib of the patient, who had a large area of cutis aplasia with bony defects of the scalp, was stillborn at 31 weeks' gestation, but genetic testing was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31368252" 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="Hartz2012" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/27/2012.
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Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T.
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<strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong>
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Biochem. Biophys. Res. Commun. 419: 14-19, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22310717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22310717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22310717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2012.01.098" target="_blank">Full Text</a>]
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<a id="Schroder2019" class="mim-anchor"></a>
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Schroder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W., Zenker, M.
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<strong>Adams-Oliver syndrome caused by mutations of the EOGT gene.</strong>
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Am. J. Med. Genet. 179A: 2246-2251, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31368252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31368252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31368252" 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.61313" target="_blank">Full Text</a>]
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<a id="Shaheen2013" class="mim-anchor"></a>
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Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S.
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<strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong>
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Am. J. Hum. Genet. 92: 598-604, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[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=23522784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.02.012" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 12/17/2020
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Marla J. F. O'Neill - updated : 7/2/2013
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Patricia A. Hartz : 8/28/2012
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carol : 12/17/2020
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carol : 03/25/2016<br>alopez : 9/9/2014<br>carol : 7/2/2013<br>alopez : 8/28/2012
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<strong>*</strong> 614789
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EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT
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EOGT1<br />
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CHROMOSOME 3 OPEN READING FRAME 64; C3ORF64
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<strong><em>HGNC Approved Gene Symbol: EOGT</em></strong>
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Cytogenetic location: 3p14.1
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<span class="small">(from NCBI)</span>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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3p14.1
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Adams-Oliver syndrome 4
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<span class="mim-font">
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615297
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Protein modification by O-linked-N-acetylglucosamine (O-GlcNAc) regulates intracellular signaling, endocytosis, transcription, and protein stability, and can modulate nutrient sensing. EOGT functions as an O-GlcNAc transferase (EC 2.4.1.255) that modifies threonine residues within epidermal growth factor (EGF; see 131530)-like repeats (summary by Sakaidani et al., 2012). </p>
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<strong>Cloning and Expression</strong>
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<p>By database analysis using Drosophila Eogt as query, Sakaidani et al. (2012) identified the mouse, human, and nematode orthologs. Mouse Eogt1 encodes a deduced 527-amino acid protein containing an N-terminal signal peptide and a C-terminal KDEL-like sequence for retention in the endoplasmic reticulum. Northern blot analysis detected variable expression of a major 4.6-kb transcript in all mouse tissues examined, with highest expression in lung and lowest expression in skeletal muscle. Sakaidani et al. (2012) also identified a minor splice variant that includes the 94-basepair intron 12, resulting in a premature stop codon. The truncated protein is predicted to be inactive. </p><p>To determine the developmental expression pattern of Eogt, Shaheen et al. (2013) performed whole-mount in situ hybridization on mouse embryos and observed expression of Eogt at embryonic day (E) 10.5 in the growing edge of the limb buds. At E11.5, Eogt mRNA was enriched in the apical ectodermal ridge of the limbs. By E12.5, the expression of Eogt assumed a digit-condensation pattern in the 4 limbs. </p>
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<strong>Mapping</strong>
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<p>Hartz (2012) mapped the EOGT gene to chromosome 3p14.1 based on an alignment of the EOGT sequence (GenBank AK091089) with the genomic sequence (GRCh37).</p>
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<strong>Gene Function</strong>
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<p>Using an in vitro assay, Sakaidani et al. (2012) found that mouse Eogt utilized uridine diphosphate (UDP)-GlcNAc as a sugar donor to transfer GlcNAc to a conserved threonine residue within the EGF-like domain of Notch (see 190198). Enzyme activity was enhanced in the presence of divalent cations, particularly Mn(2+). In transfected HEK293 cells, the O-GlcNAc moiety was further modified into an elongated glycan capped by N-acetyl-lactosamine. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected individuals from 3 consanguineous Arab families with Adams-Oliver syndrome mapping to chromosome 3 (AOS4; 615297), Shaheen et al. (2013) identified homozygosity for 2 missense mutations and a 1-bp deletion, respectively (614789.0001-614789.0003). The variants segregated with disease in the families and were not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. </p><p>In a Turkish boy and his father with AOS4 from a multiconsanguineous family, Schroder et al. (2019) identified a homozygous missense mutation in the EOGT gene (C135Y; 614789.0004). In a German man with AOS4, they identified a homozygous splicing mutation (614789.0005) in the EOGT gene. The man's parents were heterozygous for the mutation. </p>
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<strong>Animal Model</strong>
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<p>Sakaidani et al. (2012) found that depletion of Eogt in developing Drosophila wing discs caused cell adhesion defects and resulted in wing blistering in the posterior compartment. The phenotype was completely rescued by expression of mouse Eogt1, indicating conservation of function. </p>
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</span>
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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>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 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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<h4>
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<span class="mim-font">
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<strong>.0001 ADAMS-OLIVER SYNDROME 4</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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EOGT, TRP207SER
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<br />
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SNP: rs587776993,
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ClinVar: RCV000049241
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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 5-week-old Arab girl with Adams-Oliver syndrome (AOS4; 615297), who was born of first-cousin parents, Shaheen et al. (2013) identified homozygosity for a c.620G-C transversion in the EOGT gene, resulting in a trp207-to-ser (W207S) substitution at a highly conserved residue. Her unaffected parents were heterozygous carriers of the mutation, which was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. In addition to cutis aplasia of the scalp and terminal transverse defects of her toes, she had an atrial septal defect (ASD-II), but she had no microphthalmia and neuroimaging was normal. </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 ADAMS-OLIVER SYNDROME 4</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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EOGT, 1-BP DEL, 1074A
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<br />
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SNP: rs587776994,
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ClinVar: RCV000049242, RCV000162168, RCV001091100
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 2.67-year-old Arab boy with Adams-Oliver syndrome (AOS4; 615297), who was born of consanguineous parents, Shaheen et al. (2013) identified homozygosity for a 1-bp deletion (c.1074delA) in the EOGT gene, causing a frameshift that resulted in a premature stop codon (Gly359AspfsTer28). The mutation was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. In addition to cutis aplasia of the scalp and terminal transverse defects of the toes that were more pronounced on the right, he had a muscular ventricular septal defect and patent ductus arteriosus, which had resolved. Additional features included left temporal and occipital lobe infarcts of presumed prenatal origin, speech and fine motor delays, and umbilical hernia. Shaheen et al. (2013) stated that using the alternatively spliced NCBI version of EOGT (GenBank NM_173654.1), the mutation would be designated 832-791delA. </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 ADAMS-OLIVER SYNDROME 4</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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EOGT, ARG377GLN
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<br />
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SNP: rs587776995,
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gnomAD: rs587776995,
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ClinVar: RCV000049243
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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 3 affected children from a consanguineous Arab kindred with Adams-Oliver syndrome (AOS4; 615297), Shaheen et al. (2013) identified homozygosity for a c.1130G-A transition in the EOGT gene, resulting in an arg377-to-gln (R377Q) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server. The 3 affected individuals had cutis aplasia of the scalp and terminal transverse defects of the toes, but no microphthalmia or cardiac anomalies. The 3-year-old female proband also exhibited cutis marmorata, 6 cafe-au-lait patches on her chest and abdomen, and a small umbilical hernia. Shaheen et al. (2013) stated that using the alternatively spliced NCBI version of EOGT (GenBank NM_173654.1), the mutation would be designated c.878G-A, ARG293GLN. </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 ADAMS-OLIVER SYNDROME 4</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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EOGT, CYS135TYR
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<br />
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SNP: rs1247059195,
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gnomAD: rs1247059195,
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ClinVar: RCV000662232
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-year-old boy with Adams-Oliver syndrome (AOS4; 615297) from a multiconsanguineous Turkish family, Schroder et al. (2019) identified a homozygous c.404G-A transition (c.404G-A, NM_001278689.1) in the EOGT gene, resulting in a cys135-to-ter (C135Y) substitution at a highly conserved residue. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient's father, who had a hairless, scarred area on his scalp, was also found to be homozygous for the mutation. The variant was present in 1 in 249,292 alleles in the gnomAD database. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 ADAMS-OLIVER SYNDROME 4</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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EOGT, IVS5DS, G-T, +1
|
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<br />
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SNP: rs369583084,
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gnomAD: rs369583084,
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ClinVar: RCV000662231
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 24-year-old German man with Adams-Oliver syndrome (AOS4; 615297), Schroder et al. (2019) identified a homozygous splice site mutation (c.311+1G-T, NM_001278689.1) in the EOGT gene, predicted to lead to abnormal splicing of exon 5. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was present in 6 of 251,330 alleles in the gnomAD database. Functional studies were not performed. A sib of the patient, who had a large area of cutis aplasia with bony defects of the scalp, was stillborn at 31 weeks' gestation, but genetic testing was not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</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">
|
|
Hartz, P. A.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 8/27/2012.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Sakaidani, Y., Ichiyanagi, N., Saito, C., Nomura, T., Ito, M., Nishio, Y., Nadano, D., Matsuda, T., Furukawa, K., Okajima, T.
|
|
<strong>O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1.</strong>
|
|
Biochem. Biophys. Res. Commun. 419: 14-19, 2012.
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[PubMed: 22310717]
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[Full Text: https://doi.org/10.1016/j.bbrc.2012.01.098]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schroder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W., Zenker, M.
|
|
<strong>Adams-Oliver syndrome caused by mutations of the EOGT gene.</strong>
|
|
Am. J. Med. Genet. 179A: 2246-2251, 2019.
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[PubMed: 31368252]
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[Full Text: https://doi.org/10.1002/ajmg.a.61313]
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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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Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S.
|
|
<strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong>
|
|
Am. J. Hum. Genet. 92: 598-604, 2013.
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[PubMed: 23522784]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.012]
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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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Contributors:
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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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Hilary J. Vernon - updated : 12/17/2020<br>Marla J. F. O'Neill - updated : 7/2/2013
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/28/2012
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<div>
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carol : 12/17/2020<br>carol : 03/25/2016<br>alopez : 9/9/2014<br>carol : 7/2/2013<br>alopez : 8/28/2012
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