3219 lines
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- *606417 - WD REPEAT-CONTAINING PROTEIN 11; WDR11
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- OMIM
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<p>
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<span class="h4">*606417</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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/606417">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<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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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000120008;t=ENST00000263461" 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=55717" 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=606417" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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=ENSG00000120008;t=ENST00000263461" 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_018117,XM_005269963,XM_047425458,XM_047425459,XR_007061973,XR_428707" 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_018117" 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=606417" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=16218&isoform_id=16218_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/WDR11" 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/7020772,7022583,12802695,13324688,17368715,48734942,52545636,54311311,119569748,119569749,119569750,119569751,189054771,194377716,194388914,530393964,929654897,2217277854,2217277856,2462520010,2462520012,2462520014" 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/Q9BZH6" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55717" 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=ENSG00000120008;t=ENST00000263461" 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=WDR11" 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=WDR11" 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+55717" 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/WDR11" 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:55717" 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/55717" 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=chr10&hgg_gene=ENST00000263461.11&hgg_start=120851362&hgg_end=120909524&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606417[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 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=606417[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/WDR11/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/ENSG00000120008" 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=WDR11" 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=WDR11" 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=WDR11" 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=WDR11&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/PA37818" 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:13831" 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://www.mousephenotype.org/data/genes/MGI:1920230" 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/WDR11#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:1920230" 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/55717/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=55717" 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=WBGene00022459;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-081107-28" 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=WDR11&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606417
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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 11; WDR11
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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">
|
|
WDR15<br />
|
|
KIAA1351<br />
|
|
BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 2, FORMERLY; BRWD2, FORMERLY
|
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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=WDR11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDR11</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/10/617?start=-3&limit=10&highlight=617">10q26.12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:120851362-120909524&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'})">10:120,851,362-120,909,524</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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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>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614858,620237" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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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>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/617?start=-3&limit=10&highlight=617">
|
|
10q26.12
|
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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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Hypogonadotropic hypogonadism 14 with or without anosmia
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614858"> 614858 </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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Intellectual developmental disorder, autosomal recessive 78
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/620237"> 620237 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606417" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606417" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<p>WDR11 is a member of the WD repeat-containing protein family. For background information on this family, see <a href="/entry/604734">604734</a>.</p>
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<p>Allelic deletions in 10q25-q26 and 19q13.3-q13.4 are common genetic alterations in glial tumors. <a href="#1" class="mim-tip-reference" title="Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K. <strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong> Oncogene 20: 5378-5392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>] [<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536051">Chernova et al. (2001)</a> identified a balanced t(10;19) reciprocal translocation in a glioblastoma cell line that involved both critical regions on chromosomes 10 and 19. By positional cloning of the translocation breakpoint, they identified a novel WD-repeat gene on chromosome 10, which they designated WDR11. WDR11 encodes a deduced 1,224-amino acid polypeptide with a calculated molecular mass of 137 kD. It contains 6 putative WD40 repeats, a predicted transmembrane region, and a tyrosine kinase phosphorylation site. Northern blot analysis detected ubiquitous expression of 3 major transcripts (4.5, 2.7 and 2.0 kb) in all tissues tested. <a href="#1" class="mim-tip-reference" title="Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K. <strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong> Oncogene 20: 5378-5392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>] [<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536051">Chernova et al. (2001)</a> determined that the translocation resulted in deletion of exon 5 and fusion of intron 4 of WDR11 to the 3-prime untranslated region of ZNF320 (<a href="/entry/606427">606427</a>), a novel member of the Kruppel-like zinc finger gene family on chromosome 19. Since ZNF320 is oriented toward the centromere of chromosome 19, both genes appeared on the same derivative chromosome, der(10). The chimeric transcript encodes an aberrant WDR11 polypeptide, which is truncated after the second of the 6 WD repeats. Because of the localization of WDR11 in a region frequently showing loss of heterozygosity in glioblastoma (see DMBT1; <a href="/entry/601969">601969</a>) and because WDR11 is inactivated in glioblastoma cells, <a href="#1" class="mim-tip-reference" title="Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K. <strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong> Oncogene 20: 5378-5392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>] [<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536051">Chernova et al. (2001)</a> considered WDR11 to be a candidate tumor suppressor gene involved in tumorigenesis of glial and other tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To investigate developmental expression of Wdr11, <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> performed whole-mount in situ hybridization analysis in mouse embryos from days E10.5 to E14.5. As early as E10.5, the entire developing central nervous system, except for the spinal cord, revealed Wdr11 expression. The neuroepithelium, including the diencephalic region that gives rise to hypothalamic neurons where GnRH (<a href="/entry/152760">152760</a>) neurons reside, stained strongly for Wdr11 at E11.5 and E12.5. At E14.5, high levels of Wdr11 expression were particularly noteworthy in the developing cortex and olfactory bulb. In the adult brain, intense Wdr11 expression was restricted to the olfactory bulb, the olfaction-related piriform cortex, the granule cell layer of the cerebellum, and neurons of the hippocampal formation. <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> noted that the pattern of expression was consistent with a role for WDR11 in both normosmic and anosmic forms of hypogonadotropic hypogonadism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" 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>Through immunofluorescent staining of control fibroblasts, <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a> showed juxtanuclear localization of WDR11; WDR11 was also detected in the trans-Golgi network. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K. <strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong> Oncogene 20: 5378-5392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>] [<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536051">Chernova et al. (2001)</a> determined that the WDR11 gene contains 29 exons distributed over 58 kb and is oriented towards the telomere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536051" 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 positional cloning, <a href="#1" class="mim-tip-reference" title="Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K. <strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong> Oncogene 20: 5378-5392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>] [<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11536051">Chernova et al. (2001)</a> mapped the WDR11 gene to chromosome 10q26. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536051" 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 a yeast 2-hybrid screen, <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> identified EMX1 (<a href="/entry/600034">600034</a>) as a WDR11 binding partner. The interaction was confirmed in mammalian cells by coimmunoprecipitation assays and further confirmed by GST pull-down analysis. <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> generated WDR11 deletion mutants and performed GST pull-down assays to assess binding, which demonstrated that both the N terminus and the central portion of WDR11 bind to EMX1, whereas the C terminus does not. Immunostaining in a physiologically relevant human cell system consisting of immortalized human embryonic olfactory GnRH neuroblasts isolated from olfactory epithelium of an 8- to 12-week-old human embryo (FCNB4-hTERT cells) localized WDR11 to the cytoplasm. Fluorescence microscopy of transfected U2OS cells also showed a cytoplasmic localization for WDR11, whereas EMX1 localized to the nucleus. However, after treatment with leptomycin B, an inhibitor of nuclear export, both EMX1 and WDR11 colocalized in the nucleus, suggesting that WDR11 might be shuttling between nucleus and cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" 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><strong><em>Hypogonadotropic Hypogonadism 14</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> screened 201 normosmic and hyposmic/anosmic patients with hypogonadotropic hypogonadism (HH14; <a href="/entry/614858">614858</a>) for mutations in the candidate gene WDR11 (<a href="/entry/606417">606417</a>) and identified 5 different heterozygous missense mutations in 6 unrelated probands, including 5 normosmic patients (see, e.g., <a href="#0001">606417.0001</a> and <a href="#0002">606417.0002</a>) and 1 anosmic patient (<a href="#0003">606417.0003</a>). DNA from the parents was unavailable, but the mutations were not found in more than 400 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" 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><strong><em>Autosomal Recessive Intellectual Developmental Disorder 78</em></strong></p><p>
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In 6 patients from 3 unrelated families with autosomal recessive intellectual developmental disorder-78 (MRT78; <a href="/entry/620237">620237</a>), <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a> identified homozygous or compound heterozygous loss-of-function mutations in the WDR11 gene (<a href="#0004">606417.0004</a>-<a href="#0007">606417.0007</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all 3 families. Western blot analysis of fibroblasts from 1 of the patients demonstrated complete absence of the WDR11 protein. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs139007744 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139007744;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/rs139007744?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=rs139007744" 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=rs139007744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a man with incomplete hypogonadotropic hypogonadism and an unrelated woman with complete HH, both of whom were normosmic (HH14; <a href="/entry/614858">614858</a>), <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> identified heterozygosity for a 3450T-G transversion in exon 28 of the WDR11 gene, resulting in a phe1150-to-leu (F1150L) substitution at a highly conserved residue near the C terminus. The mutation was not found in 420 white controls. Haplotype analysis indicated a shared haplotype around WDR11, suggesting that the 2 patients were likely to be descended from a recent common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Turkish man with complete hypogonadotropic hypogonadism, who had bilateral cryptorchidism and a normal sense of smell (HH14; <a href="/entry/614858">614858</a>), <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> identified heterozygosity for a 1303G-A transition in exon 10 of the WDR11 gene, resulting in an ala435-to-thr (A435T) substitution at a highly conserved residue within the sixth WD domain. Transfection studies in HEK293 cells demonstrated that the A435T mutation abolishes EMX1 (<a href="/entry/600034">600034</a>) binding. The mutation was not found in 402 Turkish controls or 426 white controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs318240761 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs318240761;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/rs318240761?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=rs318240761" 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=rs318240761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a man with anosmic hypogonadotropic hypogonadism (HH14; <a href="/entry/614858">614858</a>), <a href="#3" class="mim-tip-reference" title="Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others. <strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong> Am. J. Hum. Genet. 87: 465-479, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20887964">Kim et al. (2010)</a> identified heterozygosity for a 2070T-A transversion in exon 16 of the WDR11 gene, resulting in a his690-to-gln (H690Q) substitution at a highly conserved residue within the ninth WD domain. Transfection studies in HEK293 cells demonstrated that the H690Q mutation abolishes EMX1 (<a href="/entry/600034">600034</a>) binding. The mutation was not found in 420 white controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20887964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</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">rs2133748193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2133748193;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=rs2133748193" 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=rs2133748193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sisters, born of consanguineous Syrian parents (family A), with autosomal recessive intellectual developmental disorder-78 (MRT78; <a href="/entry/620237">620237</a>), <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a> identified a homozygous c.1255C-T transition (c.1255C-T, NM_018117.12) in exon 9 of the WDR11 gene, resulting in a gln419-to-ter (Q419X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was not present in the gnomAD database. Western blot analysis of patient fibroblasts showed complete absence of the WDR11 protein without indication of a truncated variant. The loss of WDR11 expression was also demonstrated through immunofluorescent studies of patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs760973100 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760973100;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/rs760973100?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=rs760973100" 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=rs760973100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 12.5-year-old boy, born of unrelated parents from Singapore (family B), with autosomal recessive intellectual developmental disorder-78 (MRT78; <a href="/entry/620237">620237</a>), <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a> identified compound heterozygous frameshift mutations in the WDR11 gene: a 4-bp deletion (c.3033_3036del, NM_018117.12) in exon 25 inherited from the unaffected mother and resulting in premature termination (Asp1011GlufsTer21), and 1-bp deletion (c.1439del; <a href="#0006">606417.0006</a>) in exon 10 inherited from the unaffected father, also resulting in premature termination (Asn480ThrfsTer32). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Both were found at low frequencies in the gnomAD database (1 of 251,436 alleles for the maternal mutation and 4 of 251,334 alleles for the paternal mutation). Based on the location of the mutations, both were predicted to result in nonsense-mediated mRNA decay and a complete loss of function. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs747938475 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747938475;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/rs747938475?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=rs747938475" 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=rs747938475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001647288 OR RCV003152629 OR RCV004753315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001647288, RCV003152629, RCV004753315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001647288...</a>
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<p>For discussion of the 1-bp deletion (c.1439del, NM_018117.12) in exon 10 of the WDR11 gene, resulting in a frameshift and premature termination (Asn480ThrfsTer32), that was found in compound heterozygous state in a patient with autosomal recessive intellectual developmental disorder-78 (MRT78; <a href="/entry/620237">620237</a>) by <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a>, see <a href="#0005">606417.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1252726486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1252726486;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/rs1252726486?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=rs1252726486" 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=rs1252726486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001647287 OR RCV003152628" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001647287, RCV003152628" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001647287...</a>
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<p>In 3 sibs, born of consanguineous Kuwaiti parents (family C), with autosomal recessive intellectual developmental disorder-78 (MRT78; <a href="/entry/620237">620237</a>), <a href="#2" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. <strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong> Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34413497">Haag et al. (2021)</a> identified a homozygous G-to-A transition in intron 23 of the WDR11 gene (c.2931+1G-A, NM_018117.12), predicted to result in a splicing defect, the skipping of exon 23, a frameshift, and premature termination. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found once in the gnomAD database (1 of 251,298 alleles). Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in a complete loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" 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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Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K.
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<strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong>
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Oncogene 20: 5378-5392, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11536051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11536051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11536051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1204694" target="_blank">Full Text</a>]
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Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C.
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<strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong>
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Europ. J. Hum. Genet. 29: 1663-1668, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[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=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank">Full Text</a>]
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Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others.
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<strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong>
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Am. J. Hum. Genet. 87: 465-479, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20887964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20887964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20887964[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=20887964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 02/06/2023
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/29/2001
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/08/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 02/06/2023<br>carol : 10/11/2012<br>mgross : 2/26/2010<br>mgross : 2/26/2010<br>mgross : 2/26/2010<br>alopez : 10/27/2009<br>mgross : 9/2/2005<br>alopez : 11/3/2003<br>carol : 10/31/2001<br>carol : 10/29/2001<br>carol : 10/29/2001<br>carol : 10/29/2001
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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>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606417
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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WD REPEAT-CONTAINING PROTEIN 11; WDR11
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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WDR15<br />
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KIAA1351<br />
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BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 2, FORMERLY; BRWD2, FORMERLY
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WDR11</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 10q26.12
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:120,851,362-120,909,524 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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10q26.12
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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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Hypogonadotropic hypogonadism 14 with or without anosmia
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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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614858
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Intellectual developmental disorder, autosomal recessive 78
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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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620237
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>WDR11 is a member of the WD repeat-containing protein family. For background information on this family, see 604734.</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">
|
|
<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>Allelic deletions in 10q25-q26 and 19q13.3-q13.4 are common genetic alterations in glial tumors. Chernova et al. (2001) identified a balanced t(10;19) reciprocal translocation in a glioblastoma cell line that involved both critical regions on chromosomes 10 and 19. By positional cloning of the translocation breakpoint, they identified a novel WD-repeat gene on chromosome 10, which they designated WDR11. WDR11 encodes a deduced 1,224-amino acid polypeptide with a calculated molecular mass of 137 kD. It contains 6 putative WD40 repeats, a predicted transmembrane region, and a tyrosine kinase phosphorylation site. Northern blot analysis detected ubiquitous expression of 3 major transcripts (4.5, 2.7 and 2.0 kb) in all tissues tested. Chernova et al. (2001) determined that the translocation resulted in deletion of exon 5 and fusion of intron 4 of WDR11 to the 3-prime untranslated region of ZNF320 (606427), a novel member of the Kruppel-like zinc finger gene family on chromosome 19. Since ZNF320 is oriented toward the centromere of chromosome 19, both genes appeared on the same derivative chromosome, der(10). The chimeric transcript encodes an aberrant WDR11 polypeptide, which is truncated after the second of the 6 WD repeats. Because of the localization of WDR11 in a region frequently showing loss of heterozygosity in glioblastoma (see DMBT1; 601969) and because WDR11 is inactivated in glioblastoma cells, Chernova et al. (2001) considered WDR11 to be a candidate tumor suppressor gene involved in tumorigenesis of glial and other tumors. </p><p>To investigate developmental expression of Wdr11, Kim et al. (2010) performed whole-mount in situ hybridization analysis in mouse embryos from days E10.5 to E14.5. As early as E10.5, the entire developing central nervous system, except for the spinal cord, revealed Wdr11 expression. The neuroepithelium, including the diencephalic region that gives rise to hypothalamic neurons where GnRH (152760) neurons reside, stained strongly for Wdr11 at E11.5 and E12.5. At E14.5, high levels of Wdr11 expression were particularly noteworthy in the developing cortex and olfactory bulb. In the adult brain, intense Wdr11 expression was restricted to the olfactory bulb, the olfaction-related piriform cortex, the granule cell layer of the cerebellum, and neurons of the hippocampal formation. Kim et al. (2010) noted that the pattern of expression was consistent with a role for WDR11 in both normosmic and anosmic forms of hypogonadotropic hypogonadism. </p><p>Through immunofluorescent staining of control fibroblasts, Haag et al. (2021) showed juxtanuclear localization of WDR11; WDR11 was also detected in the trans-Golgi network. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Chernova et al. (2001) determined that the WDR11 gene contains 29 exons distributed over 58 kb and is oriented towards the telomere. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By positional cloning, Chernova et al. (2001) mapped the WDR11 gene to chromosome 10q26. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using a yeast 2-hybrid screen, Kim et al. (2010) identified EMX1 (600034) as a WDR11 binding partner. The interaction was confirmed in mammalian cells by coimmunoprecipitation assays and further confirmed by GST pull-down analysis. Kim et al. (2010) generated WDR11 deletion mutants and performed GST pull-down assays to assess binding, which demonstrated that both the N terminus and the central portion of WDR11 bind to EMX1, whereas the C terminus does not. Immunostaining in a physiologically relevant human cell system consisting of immortalized human embryonic olfactory GnRH neuroblasts isolated from olfactory epithelium of an 8- to 12-week-old human embryo (FCNB4-hTERT cells) localized WDR11 to the cytoplasm. Fluorescence microscopy of transfected U2OS cells also showed a cytoplasmic localization for WDR11, whereas EMX1 localized to the nucleus. However, after treatment with leptomycin B, an inhibitor of nuclear export, both EMX1 and WDR11 colocalized in the nucleus, suggesting that WDR11 might be shuttling between nucleus and cytoplasm. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Hypogonadotropic Hypogonadism 14</em></strong></p><p>
|
|
Kim et al. (2010) screened 201 normosmic and hyposmic/anosmic patients with hypogonadotropic hypogonadism (HH14; 614858) for mutations in the candidate gene WDR11 (606417) and identified 5 different heterozygous missense mutations in 6 unrelated probands, including 5 normosmic patients (see, e.g., 606417.0001 and 606417.0002) and 1 anosmic patient (606417.0003). DNA from the parents was unavailable, but the mutations were not found in more than 400 controls. </p><p><strong><em>Autosomal Recessive Intellectual Developmental Disorder 78</em></strong></p><p>
|
|
In 6 patients from 3 unrelated families with autosomal recessive intellectual developmental disorder-78 (MRT78; 620237), Haag et al. (2021) identified homozygous or compound heterozygous loss-of-function mutations in the WDR11 gene (606417.0004-606417.0007). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all 3 families. Western blot analysis of fibroblasts from 1 of the patients demonstrated complete absence of the WDR11 protein. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
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<span class="mim-text-font">
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|
|
WDR11, PHE1150LEU
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|
|
<br />
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|
|
SNP: rs139007744,
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|
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gnomAD: rs139007744,
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|
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ClinVar: RCV000059801, RCV000988456, RCV004584344
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|
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|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man with incomplete hypogonadotropic hypogonadism and an unrelated woman with complete HH, both of whom were normosmic (HH14; 614858), Kim et al. (2010) identified heterozygosity for a 3450T-G transversion in exon 28 of the WDR11 gene, resulting in a phe1150-to-leu (F1150L) substitution at a highly conserved residue near the C terminus. The mutation was not found in 420 white controls. Haplotype analysis indicated a shared haplotype around WDR11, suggesting that the 2 patients were likely to be descended from a recent common ancestor. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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WDR11, ALA435THR
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<br />
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|
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SNP: rs318240760,
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gnomAD: rs318240760,
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ClinVar: RCV000030849, RCV000059797
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish man with complete hypogonadotropic hypogonadism, who had bilateral cryptorchidism and a normal sense of smell (HH14; 614858), Kim et al. (2010) identified heterozygosity for a 1303G-A transition in exon 10 of the WDR11 gene, resulting in an ala435-to-thr (A435T) substitution at a highly conserved residue within the sixth WD domain. Transfection studies in HEK293 cells demonstrated that the A435T mutation abolishes EMX1 (600034) binding. The mutation was not found in 402 Turkish controls or 426 white controls. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
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WDR11, HIS690GLN
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<br />
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|
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SNP: rs318240761,
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gnomAD: rs318240761,
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ClinVar: RCV000030850, RCV000059799
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|
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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 man with anosmic hypogonadotropic hypogonadism (HH14; 614858), Kim et al. (2010) identified heterozygosity for a 2070T-A transversion in exon 16 of the WDR11 gene, resulting in a his690-to-gln (H690Q) substitution at a highly conserved residue within the ninth WD domain. Transfection studies in HEK293 cells demonstrated that the H690Q mutation abolishes EMX1 (600034) binding. The mutation was not found in 420 white controls. </p>
|
|
</span>
|
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</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
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|
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WDR11, GLN419TER
|
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<br />
|
|
|
|
SNP: rs2133748193,
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|
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|
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ClinVar: RCV001647286, RCV003152627
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</span>
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<span class="mim-text-font">
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<p>In 2 sisters, born of consanguineous Syrian parents (family A), with autosomal recessive intellectual developmental disorder-78 (MRT78; 620237), Haag et al. (2021) identified a homozygous c.1255C-T transition (c.1255C-T, NM_018117.12) in exon 9 of the WDR11 gene, resulting in a gln419-to-ter (Q419X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was not present in the gnomAD database. Western blot analysis of patient fibroblasts showed complete absence of the WDR11 protein without indication of a truncated variant. The loss of WDR11 expression was also demonstrated through immunofluorescent studies of patient fibroblasts. </p>
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<h4>
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<span class="mim-font">
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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WDR11, 4-BP DEL, NT3033 ({dbSNP rs760973100})
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<br />
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SNP: rs760973100,
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gnomAD: rs760973100,
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ClinVar: RCV001647289, RCV002554100, RCV003152630
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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 12.5-year-old boy, born of unrelated parents from Singapore (family B), with autosomal recessive intellectual developmental disorder-78 (MRT78; 620237), Haag et al. (2021) identified compound heterozygous frameshift mutations in the WDR11 gene: a 4-bp deletion (c.3033_3036del, NM_018117.12) in exon 25 inherited from the unaffected mother and resulting in premature termination (Asp1011GlufsTer21), and 1-bp deletion (c.1439del; 606417.0006) in exon 10 inherited from the unaffected father, also resulting in premature termination (Asn480ThrfsTer32). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Both were found at low frequencies in the gnomAD database (1 of 251,436 alleles for the maternal mutation and 4 of 251,334 alleles for the paternal mutation). Based on the location of the mutations, both were predicted to result in nonsense-mediated mRNA decay and a complete loss of function. Functional studies of the variants and studies of patient cells were not performed. </p>
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</span>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</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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WDR11, 1-BP DEL, NT1439
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<br />
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SNP: rs747938475,
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gnomAD: rs747938475,
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ClinVar: RCV001647288, RCV003152629, RCV004753315
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.1439del, NM_018117.12) in exon 10 of the WDR11 gene, resulting in a frameshift and premature termination (Asn480ThrfsTer32), that was found in compound heterozygous state in a patient with autosomal recessive intellectual developmental disorder-78 (MRT78; 620237) by Haag et al. (2021), see 606417.0005. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78</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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WDR11, IVS23DS, G-A, +1
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<br />
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SNP: rs1252726486,
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gnomAD: rs1252726486,
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ClinVar: RCV001647287, RCV003152628
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs, born of consanguineous Kuwaiti parents (family C), with autosomal recessive intellectual developmental disorder-78 (MRT78; 620237), Haag et al. (2021) identified a homozygous G-to-A transition in intron 23 of the WDR11 gene (c.2931+1G-A, NM_018117.12), predicted to result in a splicing defect, the skipping of exon 23, a frameshift, and premature termination. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found once in the gnomAD database (1 of 251,298 alleles). Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in a complete loss of function. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H., Crooks, C., Roe, B., Cowell, J. K.
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<strong>A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.</strong>
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Oncogene 20: 5378-5392, 2001.
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[PubMed: 11536051]
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[Full Text: https://doi.org/10.1038/sj.onc.1204694]
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</li>
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<li>
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<p class="mim-text-font">
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Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C.
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<strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong>
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Europ. J. Hum. Genet. 29: 1663-1668, 2021.
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[PubMed: 34413497]
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[Full Text: https://doi.org/10.1038/s41431-021-00943-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., and 12 others.
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<strong>WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.</strong>
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Am. J. Hum. Genet. 87: 465-479, 2010.
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[PubMed: 20887964]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.08.018]
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Cassandra L. Kniffin - updated : 02/06/2023<br>Marla J. F. O'Neill - updated : 10/11/2012
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</span>
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</div>
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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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Victor A. McKusick : 10/29/2001
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</span>
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Edit History:
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<span class="mim-text-font">
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alopez : 02/08/2023<br>ckniffin : 02/06/2023<br>carol : 10/11/2012<br>mgross : 2/26/2010<br>mgross : 2/26/2010<br>mgross : 2/26/2010<br>alopez : 10/27/2009<br>mgross : 9/2/2005<br>alopez : 11/3/2003<br>carol : 10/31/2001<br>carol : 10/29/2001<br>carol : 10/29/2001<br>carol : 10/29/2001
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