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- *617424 - WD REPEAT-CONTAINING PROTEIN 26; WDR26
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- OMIM
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<p>
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<span class="h4">*617424</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/617424">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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<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 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=ENSG00000162923;t=ENST00000414423" 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=80232" 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=617424" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000162923;t=ENST00000414423" 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_001115113,NM_001379403,NM_025160" 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_001379403" 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=617424" 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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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/WDR26" 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/10437006,11493405,34539784,34783428,37900894,55931014,62089360,71052144,117574236,119590126,119590127,119590128,119590129,119590130,134047967,194387698,211828661,264681556,264681558,1827390799" 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/Q9H7D7" 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 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 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=80232" 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=ENSG00000162923;t=ENST00000414423" 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=WDR26" 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=WDR26" 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+80232" 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/WDR26" 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:80232" 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/80232" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000414423.9&hgg_start=224385146&hgg_end=224434797&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 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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<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:21208" 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:21208" 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=617424[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=617424[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/WDR26/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000162923" 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=WDR26" 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=WDR26" 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=WDR26" 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=WDR26&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/PA134907873" 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:21208" 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/FBgn0037094.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:1923825" 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/WDR26#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:1923825" 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/80232/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=80232" 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=WBGene00021482;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-041014-277" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=WDR26&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1177167002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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617424
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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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WD REPEAT-CONTAINING PROTEIN 26; WDR26
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GID COMPLEX, SUBUNIT 7; GID7<br />
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GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 7, S. CEREVISIAE, HOMOLOG OF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WDR26" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDR26</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1746?start=-3&limit=10&highlight=1746">1q42.11-q42.12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:224385146-224434797&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:224,385,146-224,434,797</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1746?start=-3&limit=10&highlight=1746">
|
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1q42.11-q42.12
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Skraban-Deardorff syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<a href="/entry/617616"> 617616 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/617424" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/617424" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>WDR26 is a scaffolding protein that interacts with several proteins, including G-beta (see <a href="/entry/139380">139380</a>)-gamma (see <a href="/entry/606981">606981</a>) proteins, AXIN1 (<a href="/entry/603816">603816</a>), and PLCB2 (<a href="/entry/604114">604114</a>), and regulates various signaling pathways (<a href="#3" class="mim-tip-reference" title="Sun, Z., Smrcka, A. V., Chen, S. <strong>WDR26 functions as a scaffolding protein to promote G-beta-gamma-mediated phospholipase C beta-2 (PLC-beta-2) activation in leukocytes.</strong> J. Biol. Chem. 288: 16715-16725, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23625927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23625927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23625927[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/10.1074/jbc.M113.462564" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23625927">Sun et al., 2013</a>; <a href="#1" class="mim-tip-reference" title="Goto, T., Matsuzawa, J., Iemura, S., Natsume, T., Shibuya, H. <strong>WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.</strong> FEBS Lett. 590: 1291-1303, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27098453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27098453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27098453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/1873-3468.12180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27098453">Goto et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23625927+27098453" 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 searching EST databases for G-beta-like proteins containing a WD40 consensus sequence, followed by PCR of a heart cDNA library, <a href="#5" class="mim-tip-reference" title="Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M. <strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong> J. Cell. Biochem. 93: 579-587, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378603</a>] [<a href="https://doi.org/10.1002/jcb.20175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378603">Zhu et al. (2004)</a> cloned human WDR26. The predicted 514-amino acid protein has a calculated molecular mass of 58.6 kD. It contains a WD40 region with 5 WD40 repeats in tandem arrays. WDR26 is evolutionarily conserved from yeast to human. Northern blot analysis detected a 3.7-kb WDR26 transcript in most adult human tissues, with highest expression in skeletal muscle and heart. In human fetal tissues, expression was highest in skeletal muscle and brain, with lower expression in liver, lung, and heart. Fluorescence microscopy demonstrated cytoplasmic expression of WDR26 in transfected COS-7 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378603" 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>Using reporter assays, <a href="#5" class="mim-tip-reference" title="Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M. <strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong> J. Cell. Biochem. 93: 579-587, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378603</a>] [<a href="https://doi.org/10.1002/jcb.20175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378603">Zhu et al. (2004)</a> found that expression of WDR26 in COS-7 cells significantly reduced FOS (<a href="/entry/164810">164810</a>) serum response element activity and ELK1 (<a href="/entry/311040">311040</a>) transcriptional activity. They concluded that WDR26 may participate in MAP kinase (see <a href="/entry/601158">601158</a>) signaling pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Sun, Z., Tang, X., Lin, F., Chen, S. <strong>The WD40 repeat protein WDR26 binds G-beta-gamma and promotes G-beta-gamma-dependent signal transduction and leukocyte migration.</strong> J. Biol. Chem. 286: 43902-43912, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22065575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22065575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22065575[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/10.1074/jbc.M111.301382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22065575">Sun et al. (2011)</a> showed that WDR26 bound G-beta-gamma in Jurkat human T cells stimulated by SDF1 (CXCL12; <a href="/entry/600835">600835</a>). Knockdown of WDR26 via small interfering RNA selectively inhibited G-beta-gamma-dependent PLCB (see <a href="/entry/607120">607120</a>) and PI3K (see <a href="/entry/601232">601232</a>) activation and attenuated chemotaxis in Jurkat T cells in vitro and in mice. WDR26 function depended on its ability to bind G-beta-gamma. Additional experiments showed that WDR26 controlled the ability of the negative regulator RACK1 (GNB2L1; <a href="/entry/176981">176981</a>) to bind G-beta-gamma and inhibit leukocyte migration. <a href="#4" class="mim-tip-reference" title="Sun, Z., Tang, X., Lin, F., Chen, S. <strong>The WD40 repeat protein WDR26 binds G-beta-gamma and promotes G-beta-gamma-dependent signal transduction and leukocyte migration.</strong> J. Biol. Chem. 286: 43902-43912, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22065575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22065575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22065575[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/10.1074/jbc.M111.301382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22065575">Sun et al. (2011)</a> concluded that WDR26 is a G-beta-gamma-binding protein that is required for the efficacy of G-beta-gamma signaling and leukocyte migration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22065575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Sun, Z., Smrcka, A. V., Chen, S. <strong>WDR26 functions as a scaffolding protein to promote G-beta-gamma-mediated phospholipase C beta-2 (PLC-beta-2) activation in leukocytes.</strong> J. Biol. Chem. 288: 16715-16725, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23625927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23625927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23625927[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/10.1074/jbc.M113.462564" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23625927">Sun et al. (2013)</a> showed that WDR26 bound PLCB2 and enhanced PLCB2 membrane translocation and activation by G-beta-gamma in human leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23625927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Goto, T., Matsuzawa, J., Iemura, S., Natsume, T., Shibuya, H. <strong>WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.</strong> FEBS Lett. 590: 1291-1303, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27098453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27098453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27098453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/1873-3468.12180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27098453">Goto et al. (2016)</a> showed that human WDR26 and AXIN1 controlled beta-catenin (CTNNB1; <a href="/entry/116806">116806</a>) levels to negatively regulate expression of Wnt (see <a href="/entry/606359">606359</a>) target genes. Binding of WDR26 and AXIN1 was necessary for ubiquitination of CTNNB1. <a href="#1" class="mim-tip-reference" title="Goto, T., Matsuzawa, J., Iemura, S., Natsume, T., Shibuya, H. <strong>WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.</strong> FEBS Lett. 590: 1291-1303, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27098453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27098453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27098453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/1873-3468.12180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27098453">Goto et al. (2016)</a> concluded that WDR26 is an AXIN1 partner that functions in the canonical Wnt signaling pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27098453" 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="Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M. <strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong> J. Cell. Biochem. 93: 579-587, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378603</a>] [<a href="https://doi.org/10.1002/jcb.20175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378603">Zhu et al. (2004)</a> determined that the WDR26 gene contains 14 exons and spans about 46 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378603" 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="Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M. <strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong> J. Cell. Biochem. 93: 579-587, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378603</a>] [<a href="https://doi.org/10.1002/jcb.20175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378603">Zhu et al. (2004)</a> mapped the WDR26 gene to chromosome 1q42.13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378603" 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 15 unrelated patients with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified 15 different de novo heterozygous mutations in the WDR26 gene (see, e.g., <a href="#0001">617424.0001</a>-<a href="#0006">617424.0006</a>). There were 5 frameshift, 5 nonsense, 1 splice site, and 4 missense mutations. Analysis of patient cells from 3 patients, including 2 with truncating mutations (<a href="#0002">617424.0002</a> and <a href="#0004">617424.0004</a>) and 1 with a missense mutation (D284N; <a href="#0005">617424.0005</a>), showed that the truncating mutations resulted in significantly decreased mRNA and protein levels and the missense mutation resulted in slightly decreased mRNA and protein levels, suggesting haploinsufficiency as the pathogenic mechanism. Further functional studies and studies of the other variants were not performed. <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> postulated that reduced expression of WDR26 may alter multiple signaling pathways and cellular mechanisms. The patients, all of whom were of European descent or from the United States, were ascertained from several different large patient cohorts and gene repository databases; all mutations were found by trio-based exome sequencing. The frequency of WDR26 mutations was about 1 in 2,000 for all exome analyses and about 1 in 1,500 for individuals with intellectual disability, suggesting that this disorder may not be uncommon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/617424" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=617424[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 SKRABAN-DEARDORFF SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553354926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553354926;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=rs1553354926" 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=rs1553354926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000497821" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000497821" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000497821</a>
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<p>In a 4-year-old girl (individual 1) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous c.1276G-T transversion (c.1276G-T, NM_025160.6) in exon 8 of the WDR26 gene, resulting in a glu426-to-ter (E426X) substitution. The mutation was found by trio exome sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0002 SKRABAN-DEARDORFF SYNDROME</strong>
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WDR26, 2-BP DEL, NT1161
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553354980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553354980;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=rs1553354980" 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=rs1553354980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000498337" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000498337" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000498337</a>
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<p>In a 34-year-old woman (individual 2) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous 2-bp deletion (c.1161_1162del, NM_025160.6) in exon 8 of the WDR26 gene, resulting in a frameshift and premature termination (His389ProfsTer6). The mutation was found by trio exome sequencing. Analysis of patient cells showed a 69% reduction in mRNA, consistent with nonsense-mediated mRNA decay, and 75% lower levels of truncated protein compared to controls. The findings were most consistent with haploinsufficiency rather than a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 SKRABAN-DEARDORFF SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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WDR26, 1-BP DEL, 1457T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553353378 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553353378;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=rs1553353378" 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=rs1553353378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000498946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000498946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000498946</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old girl (individual 3) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous 1-bp deletion (c.1457delT, NM_025160.6) in exon 10 of the WDR26 gene, resulting in a frameshift and premature termination (Val486GlufsTer9). The mutation was found by trio exome sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 SKRABAN-DEARDORFF SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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WDR26, 2-BP DEL, 904CA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553359034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553359034;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=rs1553359034" 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=rs1553359034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000497929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000497929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000497929</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old girl (individual 5) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous 2-bp deletion (c.904_905delCA, NM_025160.6) in exon 6 of the WDR26 gene, resulting in a frameshift and premature termination (Gln302AspfsTer22). The mutation was found by trio exome sequencing. Analysis of patient cells showed a 73% reduction in mRNA, consistent with nonsense-mediated mRNA decay, and 70% lower levels of truncated protein compared to controls. The findings were most consistent with haploinsufficiency rather than a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 SKRABAN-DEARDORFF SYNDROME</strong>
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WDR26, ASP284ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553359384 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553359384;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=rs1553359384" 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=rs1553359384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000498483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000498483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000498483</a>
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<span class="mim-text-font">
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<p>In a 2-year-old girl (individual 6) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous c.850G-A transition (c.850G-A, NM_025160.6) in exon 5 of the WDR26 gene, resulting in an asp284-to-asn (D284N) substitution at a highly conserved residue that lies outside of the beta-propeller structure and may be involved in extrinsic interactions. The mutation was found by trio exome sequencing. Analysis of patient cells showed a mild decrease in mRNA (88%) and protein (85%) levels compared to controls. Additional functional studies of the variant were not performed, but it was predicted to disrupt protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 SKRABAN-DEARDORFF SYNDROME</strong>
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WDR26, SER254ARG
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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> rs150512167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs150512167;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/rs150512167?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=rs150512167" 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=rs150512167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000497307" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000497307" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000497307</a>
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<p>In a 14.5-year-old boy (individual 9) with Skraban-Deardorff syndrome (SKDEAS; <a href="/entry/617616">617616</a>), <a href="#2" class="mim-tip-reference" title="Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others. <strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong> Am. J. Hum. Genet. 101: 139-148, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28686853">Skraban et al. (2017)</a> identified a de novo heterozygous c.762T-G transversion (c.762T-G, NM_025160.6) in exon 4 of the WDR26 gene, resulting in a ser254-to-arg (S254R) substitution at a highly conserved residue in the WD6 repeat at the edge of a beta-sheet. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to disrupt protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Goto2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goto, T., Matsuzawa, J., Iemura, S., Natsume, T., Shibuya, H.
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<strong>WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.</strong>
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FEBS Lett. 590: 1291-1303, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27098453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27098453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27098453[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=27098453" 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/10.1002/1873-3468.12180" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Skraban2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others.
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<strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong>
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Am. J. Hum. Genet. 101: 139-148, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28686853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28686853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28686853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2017.06.002" target="_blank">Full Text</a>]
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Sun2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, Z., Smrcka, A. V., Chen, S.
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<strong>WDR26 functions as a scaffolding protein to promote G-beta-gamma-mediated phospholipase C beta-2 (PLC-beta-2) activation in leukocytes.</strong>
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J. Biol. Chem. 288: 16715-16725, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23625927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23625927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23625927[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=23625927" 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/10.1074/jbc.M113.462564" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Sun2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, Z., Tang, X., Lin, F., Chen, S.
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<strong>The WD40 repeat protein WDR26 binds G-beta-gamma and promotes G-beta-gamma-dependent signal transduction and leukocyte migration.</strong>
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J. Biol. Chem. 286: 43902-43912, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22065575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22065575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22065575[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=22065575" 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/10.1074/jbc.M111.301382" target="_blank">Full Text</a>]
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Zhu2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M.
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<strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong>
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J. Cell. Biochem. 93: 579-587, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378603" 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/jcb.20175" target="_blank">Full Text</a>]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 08/15/2017
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 03/31/2017
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 09/27/2017
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 08/16/2017<br>carol : 08/15/2017<br>ckniffin : 08/15/2017<br>mgross : 03/31/2017
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<strong>*</strong> 617424
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WD REPEAT-CONTAINING PROTEIN 26; WDR26
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GID COMPLEX, SUBUNIT 7; GID7<br />
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GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 7, S. CEREVISIAE, HOMOLOG OF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WDR26</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1177167002;
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<strong>
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<em>
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Cytogenetic location: 1q42.11-q42.12
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:224,385,146-224,434,797 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q42.11-q42.12
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Skraban-Deardorff syndrome
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<span class="mim-font">
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617616
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>WDR26 is a scaffolding protein that interacts with several proteins, including G-beta (see 139380)-gamma (see 606981) proteins, AXIN1 (603816), and PLCB2 (604114), and regulates various signaling pathways (Sun et al., 2013; Goto et al., 2016). </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</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 searching EST databases for G-beta-like proteins containing a WD40 consensus sequence, followed by PCR of a heart cDNA library, Zhu et al. (2004) cloned human WDR26. The predicted 514-amino acid protein has a calculated molecular mass of 58.6 kD. It contains a WD40 region with 5 WD40 repeats in tandem arrays. WDR26 is evolutionarily conserved from yeast to human. Northern blot analysis detected a 3.7-kb WDR26 transcript in most adult human tissues, with highest expression in skeletal muscle and heart. In human fetal tissues, expression was highest in skeletal muscle and brain, with lower expression in liver, lung, and heart. Fluorescence microscopy demonstrated cytoplasmic expression of WDR26 in transfected COS-7 cells. </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>Using reporter assays, Zhu et al. (2004) found that expression of WDR26 in COS-7 cells significantly reduced FOS (164810) serum response element activity and ELK1 (311040) transcriptional activity. They concluded that WDR26 may participate in MAP kinase (see 601158) signaling pathways. </p><p>Sun et al. (2011) showed that WDR26 bound G-beta-gamma in Jurkat human T cells stimulated by SDF1 (CXCL12; 600835). Knockdown of WDR26 via small interfering RNA selectively inhibited G-beta-gamma-dependent PLCB (see 607120) and PI3K (see 601232) activation and attenuated chemotaxis in Jurkat T cells in vitro and in mice. WDR26 function depended on its ability to bind G-beta-gamma. Additional experiments showed that WDR26 controlled the ability of the negative regulator RACK1 (GNB2L1; 176981) to bind G-beta-gamma and inhibit leukocyte migration. Sun et al. (2011) concluded that WDR26 is a G-beta-gamma-binding protein that is required for the efficacy of G-beta-gamma signaling and leukocyte migration. </p><p>Sun et al. (2013) showed that WDR26 bound PLCB2 and enhanced PLCB2 membrane translocation and activation by G-beta-gamma in human leukocytes. </p><p>Goto et al. (2016) showed that human WDR26 and AXIN1 controlled beta-catenin (CTNNB1; 116806) levels to negatively regulate expression of Wnt (see 606359) target genes. Binding of WDR26 and AXIN1 was necessary for ubiquitination of CTNNB1. Goto et al. (2016) concluded that WDR26 is an AXIN1 partner that functions in the canonical Wnt signaling pathway. </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>Zhu et al. (2004) determined that the WDR26 gene contains 14 exons and spans about 46 kb. </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, Zhu et al. (2004) mapped the WDR26 gene to chromosome 1q42.13. </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 15 unrelated patients with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified 15 different de novo heterozygous mutations in the WDR26 gene (see, e.g., 617424.0001-617424.0006). There were 5 frameshift, 5 nonsense, 1 splice site, and 4 missense mutations. Analysis of patient cells from 3 patients, including 2 with truncating mutations (617424.0002 and 617424.0004) and 1 with a missense mutation (D284N; 617424.0005), showed that the truncating mutations resulted in significantly decreased mRNA and protein levels and the missense mutation resulted in slightly decreased mRNA and protein levels, suggesting haploinsufficiency as the pathogenic mechanism. Further functional studies and studies of the other variants were not performed. Skraban et al. (2017) postulated that reduced expression of WDR26 may alter multiple signaling pathways and cellular mechanisms. The patients, all of whom were of European descent or from the United States, were ascertained from several different large patient cohorts and gene repository databases; all mutations were found by trio-based exome sequencing. The frequency of WDR26 mutations was about 1 in 2,000 for all exome analyses and about 1 in 1,500 for individuals with intellectual disability, suggesting that this disorder may not be uncommon. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SKRABAN-DEARDORFF SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR26, GLU426TER
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<br />
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SNP: rs1553354926,
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ClinVar: RCV000497821
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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 4-year-old girl (individual 1) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous c.1276G-T transversion (c.1276G-T, NM_025160.6) in exon 8 of the WDR26 gene, resulting in a glu426-to-ter (E426X) substitution. The mutation was found by trio exome sequencing. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SKRABAN-DEARDORFF SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR26, 2-BP DEL, NT1161
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<br />
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SNP: rs1553354980,
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ClinVar: RCV000498337
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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 34-year-old woman (individual 2) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous 2-bp deletion (c.1161_1162del, NM_025160.6) in exon 8 of the WDR26 gene, resulting in a frameshift and premature termination (His389ProfsTer6). The mutation was found by trio exome sequencing. Analysis of patient cells showed a 69% reduction in mRNA, consistent with nonsense-mediated mRNA decay, and 75% lower levels of truncated protein compared to controls. The findings were most consistent with haploinsufficiency rather than a dominant-negative effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 SKRABAN-DEARDORFF SYNDROME</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR26, 1-BP DEL, 1457T
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<br />
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SNP: rs1553353378,
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ClinVar: RCV000498946
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 3-year-old girl (individual 3) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous 1-bp deletion (c.1457delT, NM_025160.6) in exon 10 of the WDR26 gene, resulting in a frameshift and premature termination (Val486GlufsTer9). The mutation was found by trio exome sequencing. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SKRABAN-DEARDORFF SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
WDR26, 2-BP DEL, 904CA
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<br />
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|
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SNP: rs1553359034,
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|
|
ClinVar: RCV000497929
|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old girl (individual 5) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous 2-bp deletion (c.904_905delCA, NM_025160.6) in exon 6 of the WDR26 gene, resulting in a frameshift and premature termination (Gln302AspfsTer22). The mutation was found by trio exome sequencing. Analysis of patient cells showed a 73% reduction in mRNA, consistent with nonsense-mediated mRNA decay, and 70% lower levels of truncated protein compared to controls. The findings were most consistent with haploinsufficiency rather than a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<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>.0005 SKRABAN-DEARDORFF SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
WDR26, ASP284ASN
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<br />
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|
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SNP: rs1553359384,
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|
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|
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|
|
ClinVar: RCV000498483
|
|
|
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|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old girl (individual 6) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous c.850G-A transition (c.850G-A, NM_025160.6) in exon 5 of the WDR26 gene, resulting in an asp284-to-asn (D284N) substitution at a highly conserved residue that lies outside of the beta-propeller structure and may be involved in extrinsic interactions. The mutation was found by trio exome sequencing. Analysis of patient cells showed a mild decrease in mRNA (88%) and protein (85%) levels compared to controls. Additional functional studies of the variant were not performed, but it was predicted to disrupt protein function. </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SKRABAN-DEARDORFF SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR26, SER254ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs150512167,
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|
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|
|
gnomAD: rs150512167,
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|
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|
|
ClinVar: RCV000497307
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14.5-year-old boy (individual 9) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous c.762T-G transversion (c.762T-G, NM_025160.6) in exon 4 of the WDR26 gene, resulting in a ser254-to-arg (S254R) substitution at a highly conserved residue in the WD6 repeat at the edge of a beta-sheet. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to disrupt protein function. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Goto, T., Matsuzawa, J., Iemura, S., Natsume, T., Shibuya, H.
|
|
<strong>WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.</strong>
|
|
FEBS Lett. 590: 1291-1303, 2016.
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[PubMed: 27098453]
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[Full Text: https://doi.org/10.1002/1873-3468.12180]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., and 28 others.
|
|
<strong>WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features.</strong>
|
|
Am. J. Hum. Genet. 101: 139-148, 2017.
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|
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[PubMed: 28686853]
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.06.002]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sun, Z., Smrcka, A. V., Chen, S.
|
|
<strong>WDR26 functions as a scaffolding protein to promote G-beta-gamma-mediated phospholipase C beta-2 (PLC-beta-2) activation in leukocytes.</strong>
|
|
J. Biol. Chem. 288: 16715-16725, 2013.
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[PubMed: 23625927]
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[Full Text: https://doi.org/10.1074/jbc.M113.462564]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sun, Z., Tang, X., Lin, F., Chen, S.
|
|
<strong>The WD40 repeat protein WDR26 binds G-beta-gamma and promotes G-beta-gamma-dependent signal transduction and leukocyte migration.</strong>
|
|
J. Biol. Chem. 286: 43902-43912, 2011.
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[PubMed: 22065575]
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[Full Text: https://doi.org/10.1074/jbc.M111.301382]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Zhu, Y., Wang, Y., Xia, C., Li, D., Li, Y., Zeng, W., Yuan, W., Liu, H., Zhu, C., Wu, X., Liu, M.
|
|
<strong>WDR26: a novel G-beta-like protein, suppresses MAPK signaling pathway.</strong>
|
|
J. Cell. Biochem. 93: 579-587, 2004.
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[PubMed: 15378603]
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[Full Text: https://doi.org/10.1002/jcb.20175]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
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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">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 08/15/2017
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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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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Paul J. Converse : 03/31/2017
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 09/27/2017<br>carol : 08/16/2017<br>carol : 08/15/2017<br>ckniffin : 08/15/2017<br>mgross : 03/31/2017
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</span>
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</div>
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</div>
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</div>
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