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<title>
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Entry
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- *610275 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW
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- OMIM
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*610275</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610275">Table View</a>
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</li>
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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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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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=ENSG00000277161;t=ENST00000614443" 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=284098" 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=610275" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000277161;t=ENST00000614443" 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_001346754,NM_001346755,NM_178517" 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_001346754" 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=610275" 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://hprd.org/summary?hprd_id=11432&isoform_id=11432_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PIGW" 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/21753872,31339065,74713752,75750492,119577967,119577968,1092878785,1092878806" 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/Q7Z7B1" 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=284098" 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=ENSG00000277161;t=ENST00000614443" 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=PIGW" 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=PIGW" 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+284098" 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/PIGW" 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:284098" 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/284098" 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=chr17&hgg_gene=ENST00000614443.2&hgg_start=36534987&hgg_end=36539303&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23213" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:23213" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610275[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=610275[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/ENSG00000277161" 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=PIGW" 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=PIGW" 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=PIGW" 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=PIGW&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/PA134894412" 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:23213" 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/FBgn0031422.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:1917575" 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/PIGW#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:1917575" 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/284098/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=284098" 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=WBGene00022447;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-080204-94" 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:284098" 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=PIGW&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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610275
|
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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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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW
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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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<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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PIGW" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PIGW</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>
|
|
Cytogenetic location: <a href="/geneMap/17/448?start=-3&limit=10&highlight=448">17q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:36534987-36539303&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'})">17:36,534,987-36,539,303</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
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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>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/448?start=-3&limit=10&highlight=448">
|
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17q12
|
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</a>
|
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</span>
|
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</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
Glycosylphosphatidylinositol biosynthesis defect 11
|
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|
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</span>
|
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</td>
|
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<td>
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<p>Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (<a href="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517336" 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>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (<a href="/entry/311770">311770</a>).</p>
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<p>By database searching for sequences similar to rat Pigw, <a href="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al. (2003)</a> identified human PIGW. The deduced 504-amino acid protein contains 13 transmembrane domains and shares 77% sequence identity with the rat protein. Fractionation of a human lymphoblastoid cell line revealed that PIGW associated with the endoplasmic reticulum (ER). <a href="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al. (2003)</a> determined that the N terminus and several conserved regions of rat Pigw face the lumen of the ER, whereas its C terminus is cytoplasmic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517336" 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="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al. (2003)</a> demonstrated that rat Pigw has inositol acyltransferase activity, generating N-acetylglucosamine-acylphosphatidylinositol (GlcN-acylPI). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517336" 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="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al. (2003)</a> determined that PIGW is an intronless gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517336" 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 genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T. <strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong> Molec. Biol. Cell 14: 4285-4295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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/10.1091/mbc.e03-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517336">Murakami et al. (2003)</a> mapped the PIGW gene to chromosome 17q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517336" 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 a Japanese boy, born of unrelated parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#1" class="mim-tip-reference" title="Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y. <strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong> J. Med. Genet. 51: 203-207, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24367057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24367057</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-102156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24367057">Chiyonobu et al. (2014)</a> identified compound heterozygous missense mutations in the PIGW gene: T71P (<a href="#0001">610275.0001</a>) and M167V (<a href="#0002">610275.0002</a>). In vitro functional expression studies suggested that the mutations reduced PIGW activity. However, <a href="#1" class="mim-tip-reference" title="Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y. <strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong> J. Med. Genet. 51: 203-207, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24367057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24367057</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-102156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24367057">Chiyonobu et al. (2014)</a> noted that confirmation of the findings in additional families was warranted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24367057" 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 2 second-degree cousins with GPIBD11, <a href="#3" class="mim-tip-reference" title="Hogrebe, M., Murakami, Y., Wild, M., Ahlmann, M., Biskup, S., Hortnagel, K., Gruneberg, M., Reunert, J., Linden, T., Kinoshita, T., Marquardt, T. <strong>A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.</strong> Am. J. Med. Genet. 170A: 3319-3322, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626616</a>] [<a href="https://doi.org/10.1002/ajmg.a.37950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626616">Hogrebe et al. (2016)</a> identified a homozygous missense mutation in the PIGW gene (R154G; <a href="/entry/610375#0003">610375.0003</a>). The mutation was found by next generation sequencing and confirmed by Sanger sequencing. Transfection of rat Pigw carrying the R154G mutation into Pigw-deficient CHO cells failed to restore surface expression of certain GPI-anchored proteins, indicating that it is a hypomorphic allele. The patients did not have increased serum alkaline phosphatase, but did have subtle deficiencies in the cellular expression of certain GPI-anchored protein, particularly CD16 (see <a href="/entry/146740">146740</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in a cohort of 19 families with a history of fetal anomalies, <a href="#4" class="mim-tip-reference" title="Meier, N., Bruder, E., Lapaire, O., Hoesli, I., Kang, A., Hench, J., Hoeller, S., De Geyter, J., Miny, P., Heinimann, K., Chaoui, R., Tercanli, S., Filges, I. <strong>Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.</strong> Europ. J. Hum. Genet. 27: 730-737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30679815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30679815</a>] [<a href="https://doi.org/10.1038/s41431-018-0324-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30679815">Meier et al. (2019)</a> identified a homozygous missense mutation in the PIGW gene (R36G; <a href="#0004">610275.0004</a>) in 2 sib fetuses (family 9). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30679815" 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 Chinese boy, born of unrelated parents, with GPIBD11, <a href="#2" class="mim-tip-reference" title="Fu, L., Liu, Y., Chen, Y., Yuan, Y., Wei, W. <strong>Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.</strong> BMC Pediat 19: 68, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30813920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30813920</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30813920[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s12887-019-1440-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30813920">Fu et al. (2019)</a> identified compound heterozygous missense mutations in the PIGW gene (D60N, <a href="#0005">610275.0005</a> and R154S, <a href="#0006">610275.0006</a>). The mutations were found by trio whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30813920" 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 an Egyptian girl, born to consanguineous parents, with GPIBD11, <a href="#6" class="mim-tip-reference" title="Peron, A., Iascone, M., Salvatici, E., Cavirani, B., Marchetti, D., Corno, S., Vignoli, A. <strong>PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.</strong> Am. J. Med. Genet. 182A: 1477-1482, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32198969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32198969</a>] [<a href="https://doi.org/10.1002/ajmg.a.61555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32198969">Peron et al. (2020)</a> identified a homozygous missense mutation in the PIGW gene (L26S; <a href="#0007">610275.0007</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32198969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610275[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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<strong>.0001 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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<p>In a Japanese boy, born of unrelated parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#1" class="mim-tip-reference" title="Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y. <strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong> J. Med. Genet. 51: 203-207, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24367057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24367057</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-102156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24367057">Chiyonobu et al. (2014)</a> identified compound heterozygous mutations in the PIGW gene: a c.211A-C transversion, resulting in a thr71-to-pro (T71P) substitution in the second transmembrane domain, and a c.499A-G transition, resulting in a met167-to-val (M167V; <a href="#0002">610275.0002</a>) substitution in the fifth transmembrane domain. Both mutations occurred at highly conserved residues. The mutations were found by targeted sequencing of known GPI-anchor synthesis genes after the patient was found to have elevated serum alkaline phosphatase (ALP). Transfection of the mutations into PIGW-deficient CHO cells showed that the T71P mutant only partially restored, and M167V did not restore at all, the surface expression of GPI-anchored protein (GPI-AP) using a weak promoter. The expression of the T71P mutant protein was one-third that of wildtype, whereas M167V expression was similar to wildtype. The findings suggested that the mutations caused hypomorphic alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24367057" 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>For discussion of the met167-to-val (M167V) mutation in the PIGW gene that was found in compound heterozygous state in a patient with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), by <a href="#1" class="mim-tip-reference" title="Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y. <strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong> J. Med. Genet. 51: 203-207, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24367057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24367057</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-102156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24367057">Chiyonobu et al. (2014)</a>, see <a href="#0001">610275.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24367057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1256773607 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1256773607;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=rs1256773607" 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=rs1256773607" 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=RCV000585892 OR RCV001268066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000585892, RCV001268066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000585892...</a>
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<p>In 2 second-degree cousins with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#3" class="mim-tip-reference" title="Hogrebe, M., Murakami, Y., Wild, M., Ahlmann, M., Biskup, S., Hortnagel, K., Gruneberg, M., Reunert, J., Linden, T., Kinoshita, T., Marquardt, T. <strong>A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.</strong> Am. J. Med. Genet. 170A: 3319-3322, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626616</a>] [<a href="https://doi.org/10.1002/ajmg.a.37950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626616">Hogrebe et al. (2016)</a> identified a homozygous c.460A-G transition (c.460A-G, NM_178517.3) in the PIGW gene, resulting in an arg154-to-gly (R154G) substitution at a highly conserved residue. The mutation was found by next-generation sequencing and confirmed by Sanger sequencing. Transfection of rat Pigw carrying the R154G mutation into Pigw-deficient CHO cells failed to restore surface expression of certain GPI-anchored proteins, indicating that it is a hypomorphic allele. The patients did not have increased serum alkaline phosphatase, but did have subtle deficiencies in the cellular expression of certain GPI-anchored protein, particularly CD16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs142067039 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs142067039;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/rs142067039?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=rs142067039" 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=rs142067039" 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=RCV000519253 OR RCV001858026 OR RCV002525234" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000519253, RCV001858026, RCV002525234" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000519253...</a>
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<p>In 2 sib fetuses (family 9) with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#4" class="mim-tip-reference" title="Meier, N., Bruder, E., Lapaire, O., Hoesli, I., Kang, A., Hench, J., Hoeller, S., De Geyter, J., Miny, P., Heinimann, K., Chaoui, R., Tercanli, S., Filges, I. <strong>Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.</strong> Europ. J. Hum. Genet. 27: 730-737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30679815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30679815</a>] [<a href="https://doi.org/10.1038/s41431-018-0324-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30679815">Meier et al. (2019)</a> identified a homozygous c.106A-G transition (c.106A-G, NM_178517.3) in the PIGW gene, resulting in an arg36-to-gly (R36G) substitution in the transmembrane domain. The mutation, which was identified by whole-exome sequencing, was present in the gnomAD database at an allele frequency of 0.0002. The mutation was likely pathogenic according to ACMG guidelines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30679815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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PIGW, ASP60ASN
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002282715" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002282715" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002282715</a>
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<p>In a Chinese boy with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#2" class="mim-tip-reference" title="Fu, L., Liu, Y., Chen, Y., Yuan, Y., Wei, W. <strong>Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.</strong> BMC Pediat 19: 68, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30813920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30813920</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30813920[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s12887-019-1440-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30813920">Fu et al. (2019)</a> identified compound heterozygous mutations in exon 2 of the PIGW gene: a c.178G-A transition, resulting in an asp60-to-asn (D60N) substitution, and a c.462A-T transversion, resulting in an arg154-to-ser (R154S) substitution. The mutations were identified by trio whole-exome sequencing and confirmed by Sanger sequencing; each parent carried one of the mutations in heterozygous state. A similarly affected sib had died at 7 months of age, but molecular studies were not performed. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30813920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002282716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002282716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002282716</a>
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<p>For discussion of the c.462A-T transversion in the PIGW gene, resulting in an arg154-to-ser (R154S) substitution, that was identified in compound heterozygous state in a Chinese patient with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>) by <a href="#2" class="mim-tip-reference" title="Fu, L., Liu, Y., Chen, Y., Yuan, Y., Wei, W. <strong>Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.</strong> BMC Pediat 19: 68, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30813920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30813920</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30813920[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s12887-019-1440-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30813920">Fu et al. (2019)</a>, see <a href="#0006">610275.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30813920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002282717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002282717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002282717</a>
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<p>In an Egyptian girl, born to consanguineous parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; <a href="/entry/616025">616025</a>), <a href="#6" class="mim-tip-reference" title="Peron, A., Iascone, M., Salvatici, E., Cavirani, B., Marchetti, D., Corno, S., Vignoli, A. <strong>PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.</strong> Am. J. Med. Genet. 182A: 1477-1482, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32198969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32198969</a>] [<a href="https://doi.org/10.1002/ajmg.a.61555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32198969">Peron et al. (2020)</a> identified a homozygous c.77T-C transition (c.77T-C, NM_178517.4) in the PIGW gene, resulting in a leu26-to-ser (L26S) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32198969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chiyonobu2014" class="mim-anchor"></a>
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Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y.
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<strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong>
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J. Med. Genet. 51: 203-207, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24367057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24367057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24367057" 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/10.1136/jmedgenet-2013-102156" target="_blank">Full Text</a>]
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Fu, L., Liu, Y., Chen, Y., Yuan, Y., Wei, W.
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<strong>Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.</strong>
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BMC Pediat 19: 68, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30813920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30813920</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30813920[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=30813920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s12887-019-1440-8" target="_blank">Full Text</a>]
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Hogrebe, M., Murakami, Y., Wild, M., Ahlmann, M., Biskup, S., Hortnagel, K., Gruneberg, M., Reunert, J., Linden, T., Kinoshita, T., Marquardt, T.
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<strong>A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.</strong>
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Am. J. Med. Genet. 170A: 3319-3322, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626616" 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.37950" target="_blank">Full Text</a>]
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Meier, N., Bruder, E., Lapaire, O., Hoesli, I., Kang, A., Hench, J., Hoeller, S., De Geyter, J., Miny, P., Heinimann, K., Chaoui, R., Tercanli, S., Filges, I.
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<strong>Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.</strong>
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Europ. J. Hum. Genet. 27: 730-737, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30679815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30679815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30679815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41431-018-0324-y" target="_blank">Full Text</a>]
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Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T.
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<strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong>
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Molec. Biol. Cell 14: 4285-4295, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14517336[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=14517336" 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/10.1091/mbc.e03-03-0193" target="_blank">Full Text</a>]
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<a id="Peron2020" class="mim-anchor"></a>
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Peron, A., Iascone, M., Salvatici, E., Cavirani, B., Marchetti, D., Corno, S., Vignoli, A.
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<strong>PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.</strong>
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Am. J. Med. Genet. 182A: 1477-1482, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32198969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32198969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32198969" 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.61555" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 09/08/2022
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Cassandra L. Kniffin - updated : 03/05/2018<br>Matthew B. Gross - updated : 01/10/2018<br>Cassandra L. Kniffin - updated : 9/23/2014
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 7/23/2006
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/09/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/08/2022<br>carol : 03/09/2018<br>ckniffin : 03/05/2018<br>mgross : 01/10/2018<br>mgross : 04/25/2016<br>mcolton : 5/15/2015<br>alopez : 9/24/2014<br>mcolton : 9/24/2014<br>ckniffin : 9/23/2014<br>carol : 7/26/2006<br>carol : 7/23/2006<br>carol : 7/23/2006
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610275
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PIGW</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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<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: 17q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:36,534,987-36,539,303 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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17q12
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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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Glycosylphosphatidylinositol biosynthesis defect 11
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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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616025
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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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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</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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<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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003). </p><p>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (311770).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By database searching for sequences similar to rat Pigw, Murakami et al. (2003) identified human PIGW. The deduced 504-amino acid protein contains 13 transmembrane domains and shares 77% sequence identity with the rat protein. Fractionation of a human lymphoblastoid cell line revealed that PIGW associated with the endoplasmic reticulum (ER). Murakami et al. (2003) determined that the N terminus and several conserved regions of rat Pigw face the lumen of the ER, whereas its C terminus is cytoplasmic. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Murakami et al. (2003) demonstrated that rat Pigw has inositol acyltransferase activity, generating N-acetylglucosamine-acylphosphatidylinositol (GlcN-acylPI). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Murakami et al. (2003) determined that PIGW is an intronless gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Murakami et al. (2003) mapped the PIGW gene to chromosome 17q. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a Japanese boy, born of unrelated parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Chiyonobu et al. (2014) identified compound heterozygous missense mutations in the PIGW gene: T71P (610275.0001) and M167V (610275.0002). In vitro functional expression studies suggested that the mutations reduced PIGW activity. However, Chiyonobu et al. (2014) noted that confirmation of the findings in additional families was warranted. </p><p>In 2 second-degree cousins with GPIBD11, Hogrebe et al. (2016) identified a homozygous missense mutation in the PIGW gene (R154G; 610375.0003). The mutation was found by next generation sequencing and confirmed by Sanger sequencing. Transfection of rat Pigw carrying the R154G mutation into Pigw-deficient CHO cells failed to restore surface expression of certain GPI-anchored proteins, indicating that it is a hypomorphic allele. The patients did not have increased serum alkaline phosphatase, but did have subtle deficiencies in the cellular expression of certain GPI-anchored protein, particularly CD16 (see 146740). </p><p>By whole-exome sequencing in a cohort of 19 families with a history of fetal anomalies, Meier et al. (2019) identified a homozygous missense mutation in the PIGW gene (R36G; 610275.0004) in 2 sib fetuses (family 9). </p><p>In a Chinese boy, born of unrelated parents, with GPIBD11, Fu et al. (2019) identified compound heterozygous missense mutations in the PIGW gene (D60N, 610275.0005 and R154S, 610275.0006). The mutations were found by trio whole-exome sequencing. </p><p>In an Egyptian girl, born to consanguineous parents, with GPIBD11, Peron et al. (2020) identified a homozygous missense mutation in the PIGW gene (L26S; 610275.0007). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in public variant databases. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PIGW, THR71PRO
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<br />
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|
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SNP: rs587777733,
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|
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gnomAD: rs587777733,
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|
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ClinVar: RCV000144174
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese boy, born of unrelated parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Chiyonobu et al. (2014) identified compound heterozygous mutations in the PIGW gene: a c.211A-C transversion, resulting in a thr71-to-pro (T71P) substitution in the second transmembrane domain, and a c.499A-G transition, resulting in a met167-to-val (M167V; 610275.0002) substitution in the fifth transmembrane domain. Both mutations occurred at highly conserved residues. The mutations were found by targeted sequencing of known GPI-anchor synthesis genes after the patient was found to have elevated serum alkaline phosphatase (ALP). Transfection of the mutations into PIGW-deficient CHO cells showed that the T71P mutant only partially restored, and M167V did not restore at all, the surface expression of GPI-anchored protein (GPI-AP) using a weak promoter. The expression of the T71P mutant protein was one-third that of wildtype, whereas M167V expression was similar to wildtype. The findings suggested that the mutations caused hypomorphic alleles. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PIGW, MET167VAL
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<br />
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SNP: rs200024253,
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gnomAD: rs200024253,
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ClinVar: RCV000144175, RCV001280546
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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>For discussion of the met167-to-val (M167V) mutation in the PIGW gene that was found in compound heterozygous state in a patient with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), by Chiyonobu et al. (2014), see 610275.0001. </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</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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PIGW, ARG154GLY
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<br />
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SNP: rs1256773607,
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ClinVar: RCV000585892, RCV001268066
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In 2 second-degree cousins with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Hogrebe et al. (2016) identified a homozygous c.460A-G transition (c.460A-G, NM_178517.3) in the PIGW gene, resulting in an arg154-to-gly (R154G) substitution at a highly conserved residue. The mutation was found by next-generation sequencing and confirmed by Sanger sequencing. Transfection of rat Pigw carrying the R154G mutation into Pigw-deficient CHO cells failed to restore surface expression of certain GPI-anchored proteins, indicating that it is a hypomorphic allele. The patients did not have increased serum alkaline phosphatase, but did have subtle deficiencies in the cellular expression of certain GPI-anchored protein, particularly CD16. </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 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</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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PIGW, ARG36GLY
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<br />
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SNP: rs142067039,
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gnomAD: rs142067039,
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ClinVar: RCV000519253, RCV001858026, RCV002525234
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In 2 sib fetuses (family 9) with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Meier et al. (2019) identified a homozygous c.106A-G transition (c.106A-G, NM_178517.3) in the PIGW gene, resulting in an arg36-to-gly (R36G) substitution in the transmembrane domain. The mutation, which was identified by whole-exome sequencing, was present in the gnomAD database at an allele frequency of 0.0002. The mutation was likely pathogenic according to ACMG guidelines. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</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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PIGW, ASP60ASN
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<br />
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ClinVar: RCV002282715
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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 Chinese boy with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Fu et al. (2019) identified compound heterozygous mutations in exon 2 of the PIGW gene: a c.178G-A transition, resulting in an asp60-to-asn (D60N) substitution, and a c.462A-T transversion, resulting in an arg154-to-ser (R154S) substitution. The mutations were identified by trio whole-exome sequencing and confirmed by Sanger sequencing; each parent carried one of the mutations in heterozygous state. A similarly affected sib had died at 7 months of age, but molecular studies were not performed. 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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<span class="mim-font">
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<strong>.0006 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PIGW, ARG154SER
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<br />
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ClinVar: RCV002282716
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<p>For discussion of the c.462A-T transversion in the PIGW gene, resulting in an arg154-to-ser (R154S) substitution, that was identified in compound heterozygous state in a Chinese patient with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025) by Fu et al. (2019), see 610275.0006. </p>
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<h4>
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<span class="mim-font">
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<strong>.0007 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PIGW, LEU26SER
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<br />
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ClinVar: RCV002282717
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<span class="mim-text-font">
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<p>In an Egyptian girl, born to consanguineous parents, with glycosylphosphatidylinositol biosynthesis defect-11 (GPIBD11; 616025), Peron et al. (2020) identified a homozygous c.77T-C transition (c.77T-C, NM_178517.4) in the PIGW gene, resulting in a leu26-to-ser (L26S) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the gnomAD database. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., Murakami, Y.
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<strong>Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.</strong>
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J. Med. Genet. 51: 203-207, 2014.
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[PubMed: 24367057]
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[Full Text: https://doi.org/10.1136/jmedgenet-2013-102156]
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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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Fu, L., Liu, Y., Chen, Y., Yuan, Y., Wei, W.
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<strong>Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.</strong>
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BMC Pediat 19: 68, 2019.
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[PubMed: 30813920]
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[Full Text: https://doi.org/10.1186/s12887-019-1440-8]
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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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Hogrebe, M., Murakami, Y., Wild, M., Ahlmann, M., Biskup, S., Hortnagel, K., Gruneberg, M., Reunert, J., Linden, T., Kinoshita, T., Marquardt, T.
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<strong>A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.</strong>
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Am. J. Med. Genet. 170A: 3319-3322, 2016.
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[PubMed: 27626616]
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[Full Text: https://doi.org/10.1002/ajmg.a.37950]
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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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Meier, N., Bruder, E., Lapaire, O., Hoesli, I., Kang, A., Hench, J., Hoeller, S., De Geyter, J., Miny, P., Heinimann, K., Chaoui, R., Tercanli, S., Filges, I.
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<strong>Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.</strong>
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Europ. J. Hum. Genet. 27: 730-737, 2019.
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[PubMed: 30679815]
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[Full Text: https://doi.org/10.1038/s41431-018-0324-y]
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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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Murakami, Y., Siripanyapinyo, U., Hong, Y., Kang, J. Y., Ishihara, S., Nakakuma, H., Maeda, Y., Kinoshita, T.
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<strong>PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.</strong>
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Molec. Biol. Cell 14: 4285-4295, 2003.
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[PubMed: 14517336]
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[Full Text: https://doi.org/10.1091/mbc.e03-03-0193]
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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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Peron, A., Iascone, M., Salvatici, E., Cavirani, B., Marchetti, D., Corno, S., Vignoli, A.
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<strong>PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.</strong>
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Am. J. Med. Genet. 182A: 1477-1482, 2020.
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[PubMed: 32198969]
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[Full Text: https://doi.org/10.1002/ajmg.a.61555]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/08/2022<br>Cassandra L. Kniffin - updated : 03/05/2018<br>Matthew B. Gross - updated : 01/10/2018<br>Cassandra L. Kniffin - updated : 9/23/2014
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Patricia A. Hartz : 7/23/2006
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carol : 09/09/2022<br>carol : 09/08/2022<br>carol : 03/09/2018<br>ckniffin : 03/05/2018<br>mgross : 01/10/2018<br>mgross : 04/25/2016<br>mcolton : 5/15/2015<br>alopez : 9/24/2014<br>mcolton : 9/24/2014<br>ckniffin : 9/23/2014<br>carol : 7/26/2006<br>carol : 7/23/2006<br>carol : 7/23/2006
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