3201 lines
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Entry
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- *610178 - KIAA0586 GENE; KIAA0586
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- OMIM
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<p>
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<span class="h4">*610178</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610178">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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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000100578;t=ENST00000652326" 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=9786" 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=610178" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000100578;t=ENST00000652326" 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_001244189,NM_001244190,NM_001244191,NM_001244192,NM_001244193,NM_001329943,NM_001329944,NM_001329945,NM_001329946,NM_001329947,NM_001364700,NM_001364701,NM_014749,XM_024449779,XM_024449780,XM_024449781,XM_024449787,XM_024449791,XM_047432000,XM_047432001,XM_047432002,XM_047432003,XM_047432004,XM_047432005,XM_047432006,XM_047432007,XM_047432008,XM_047432009,XM_047432010,XM_047432011,XM_047432012,XM_047432013,XM_047432014,XM_047432015" 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_001329943" 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=610178" 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=11092&isoform_id=11092_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/KIAA0586" 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/12654165,34304596,119601145,119601146,119601147,154813197,194380220,194380342,194380920,211828827,221044152,327478601,346644661,346644663,346644665,346644667,346644669,440575895,929654031,1050105176,1050115284,1050115290,1050115295,1050115312,1370465839,1370465841,1370465843,1370465855,1370465863,1411046034,1411048096,2217299117,2217299119,2217299121,2217299123,2217299125,2217299127,2217299129,2217299131,2217299133,2217299135,2217299137,2217299139,2217299141,2217299143,2217299145,2217299148,2462542393,2462542395,2462542397,2462542399,2462542401,2462542403,2462542405,2462542407,2462542409,2462542411,2462542413,2462542415,2462542417,2462542419,2462542421,2462542423,2462542425,2462542427,2462542429,2462542431,2462542433" 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/Q9BVV6" 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=9786" 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=ENSG00000100578;t=ENST00000652326" 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=KIAA0586" 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=KIAA0586" 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+9786" 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/KIAA0586" 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:9786" 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/9786" 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=chr14&hgg_gene=ENST00000652326.2&hgg_start=58427400&hgg_end=58562090&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610178[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610178[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/KIAA0586/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/ENSG00000100578" 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=KIAA0586" 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=KIAA0586" 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=KIAA0586" 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=KIAA0586&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/PA134992213" 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:19960" 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:1924217" 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/KIAA0586#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:1924217" 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/9786/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://omia.org/OMIA000979/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9786" 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://zfin.org/ZDB-GENE-120119-1" 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=KIAA0586&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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610178
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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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KIAA0586 GENE; KIAA0586
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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TALPID 3, CHICKEN, HOMOLOG OF; TALPID3
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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=KIAA0586" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KIAA0586</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/14/276?start=-3&limit=10&highlight=276">14q23.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:58427400-58562090&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'})">14:58,427,400-58,562,090</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>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
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Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616490,616546" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/276?start=-3&limit=10&highlight=276">
|
|
14q23.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 23
|
|
|
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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/616490"> 616490 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 14 with polydactyly
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616546"> 616546 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
|
</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/610178" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The KIAA0586 gene encodes the homolog of the mouse and chicken TALPID3 gene, which is a centrosomal protein required for ciliogenesis and hedgehog (SHH; <a href="/entry/600725">600725</a>) signaling (summary by <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> cloned KIAA0586. The deduced protein contains 1,533 amino acids. RT-PCR detected moderate expression in kidney only. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Davey, M. G., Paton, I. R., Yin, Y., Schmidt, M., Bangs, F. K., Morrice, D. R., Smith, T. G., Buxton, P., Stamataki, D., Tanaka, M., Munsterberg, A. E., Briscoe, J., Tickle, C., Burt, D. W. <strong>The chicken talpid-3 gene encodes a novel protein essential for Hedgehog signaling.</strong> Genes Dev. 20: 1365-1377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702409[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/10.1101/gad.369106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702409">Davey et al. (2006)</a> identified KIAA0586 orthologs in vertebrates only. In chicken, the protein localized to the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others. <strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong> Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166481[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.2015.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166481">Alby et al. (2015)</a> tested KIAA0586 expression in various tissues at different human developmental stages and observed specific exon 2-containing transcripts as early as 6 weeks' gestation (Carnegie stage 16). The KIAA0586 transcripts were ubiquitously expressed during fetal development and persisted postnatally in all adult tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26166481" 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 radiation hybrid analysis, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the KIAA0586 gene to chromosome 14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" 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>Joubert Syndrome 23</em></strong></p><p>
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In affected individuals from 9 unrelated families with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>), <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a> identified homozygous or compound heterozygous mutations in the KIAA0586 gene (see, e.g., <a href="#0001">610178.0001</a>-<a href="#0005">610178.0005</a>). Mutations in the first patient were found by whole-exome sequencing; biallelic mutations in 8 additional families were found by sequencing the exons of the KIAA0586 gene in a cohort of 366 additional families with the disorder. Overall, biallelic mutations were found in 9 (2.5%) of 366 families. Seven additional patients had heterozygous mutations in the KIAA0586 gene. One recurrent truncating mutation (<a href="#0001">610178.0001</a>) was found in 7 of the 9 families. Functional studies of the variants were not performed. The phenotype was relatively mild and homogeneous, consisting mainly of neurologic features, such as delayed development, abnormal eye movements, and the molar tooth sign on brain imaging. Only 1 patient had polydactyly; none had retinal, renal, or liver involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" 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>Short-Rib Thoracic Dysplasia 14 with Polydactyly</em></strong></p><p>
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By targeted next-generation sequencing of candidate ciliary genes in a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities (SRTD14; <a href="/entry/616546">616546</a>), <a href="#1" class="mim-tip-reference" title="Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others. <strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong> Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166481[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.2015.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166481">Alby et al. (2015)</a> identified homozygosity for a nonsense mutation in the KIAA0586 gene (S77X; <a href="#0006">610178.0006</a>) that segregated with disease. Additional next-generation sequencing of ciliary genes in 150 individuals with lethal ciliopathies and various combinations of brain and skeletal abnormalities identified 3 patients from 3 unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (<a href="#0007">610178.0007</a>). Haplotype analysis in the Romanian, Hungarian, and Kosovan families was consistent with a common ancestor, estimated to hve lived 16 generations (480 years) earlier. Defective ciliogenesis as well as abnormal response to SHH (<a href="/entry/600725">600725</a>)-signaling activation was observed in patient cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26166481" 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>Talpid-3 is a chicken mutant with abnormal limb patterning and malformations in other regions of the embryo that depend on hedgehog (SHH; <a href="/entry/600725">600725</a>) signaling. <a href="#3" class="mim-tip-reference" title="Davey, M. G., Paton, I. R., Yin, Y., Schmidt, M., Bangs, F. K., Morrice, D. R., Smith, T. G., Buxton, P., Stamataki, D., Tanaka, M., Munsterberg, A. E., Briscoe, J., Tickle, C., Burt, D. W. <strong>The chicken talpid-3 gene encodes a novel protein essential for Hedgehog signaling.</strong> Genes Dev. 20: 1365-1377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702409[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/10.1101/gad.369106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702409">Davey et al. (2006)</a> determined that talpid-3 is due to a frameshift mutation in the chicken ortholog of KIAA0586, leading to a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702409" 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> rs534542684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs534542684;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/rs534542684?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=rs534542684" 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=rs534542684" 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=RCV000186590 OR RCV000255927 OR RCV000612898 OR RCV000652578 OR RCV001003979 OR RCV001073225 OR RCV001193558 OR RCV001283811 OR RCV003401022 OR RCV004984730" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186590, RCV000255927, RCV000612898, RCV000652578, RCV001003979, RCV001073225, RCV001193558, RCV001283811, RCV003401022, RCV004984730" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186590...</a>
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<p>In a 5-year-old patient (UW176-3) with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>), <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a> identified compound heterozygous mutations in the KIAA0586 gene: a 1-bp deletion (c.428delG, NM_001244189.1), resulting in a frameshift and premature termination (Arg143LysfsTer4), and a G-to-C transversion (c.1413-1G-C; <a href="#0002">610178.0002</a>), resulting in a splice site mutation. The mutations, which were found by whole-exome sequencing, segregated with the disorder in the family and were filtered against the Exome Variant Server database. Direct sequencing of the KIAA0586 gene in a cohort of 366 families with Joubert syndrome found the c.428delG mutation in 6 additional patients: 1 was homozygous for the mutation, whereas the others carried it in compound heterozygosity with another pathogenic mutation (see, e.g., <a href="#0003">610178.0003</a>-<a href="#0004">610178.0004</a>). The c.428delG mutation was found at a frequency of 0.39% in the ExAC and Exome Variant Server databases, but only as a heterozygous variant. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" 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> rs757350052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757350052;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/rs757350052?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=rs757350052" 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=rs757350052" 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=RCV000186591 OR RCV000479178 OR RCV000652577" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186591, RCV000479178, RCV000652577" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186591...</a>
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<p>For discussion of the c.1413-1G-C mutation (c.1413-1G-C, NM_001244189.1) in the KIAA0586 gene that was found in compound heterozygous state in a patient with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>) by <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a>, see <a href="#0001">610178.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" 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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KIAA0586, GLN387TER
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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> rs796052128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796052128;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/rs796052128?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=rs796052128" 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=rs796052128" 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=RCV000186592 OR RCV002272164 OR RCV003401023" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186592, RCV002272164, RCV003401023" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186592...</a>
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<p>In a patient (UW175-3) with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>), <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a> identified compound heterozygous mutations in the KIAA0586 gene: a c.1159C-T transition (c.1159C-T, NM_001244189.1), resulting in a gln387-to-ter (Q387X) substitution, and c.428delG (<a href="#0001">610178.0001</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" 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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KIAA0586, 2-BP DEL, 863AA
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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> rs770566897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770566897;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/rs770566897?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=rs770566897" 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=rs770566897" 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=RCV000186593 OR RCV001003980 OR RCV001091046 OR RCV001778778 OR RCV001852435" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186593, RCV001003980, RCV001091046, RCV001778778, RCV001852435" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186593...</a>
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<p>In a patient (UW178-3) with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>), <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a> identified compound heterozygous mutations in the KIAA0586 gene: a 2-bp deletion (c.863_864delAA, NM_001244189.1), resulting in a frameshift and premature termination (Gln288ArgfsTer7), and c.428delG (<a href="#0001">610178.0001</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 JOUBERT SYNDROME 23</strong>
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KIAA0586, ASP566VAL
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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> rs796052129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796052129;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/rs796052129?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=rs796052129" 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=rs796052129" 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=RCV000186594" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186594" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186594</a>
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<p>In a patient (UW180-3) with Joubert syndrome-23 (JBTS23; <a href="/entry/616490">616490</a>), <a href="#2" class="mim-tip-reference" title="Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D. <strong>KIAA0586 is mutated in Joubert syndrome.</strong> Hum. Mutat. 36: 831-835, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26096313">Bachmann-Gagescu et al. (2015)</a> identified a homozygous c.1697A-T transversion (c.1697A-T, NM_001244189.1) in the KIAA0586 gene, resulting in an asp566-to-val (D566V) substitution. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26096313" 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 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY</strong>
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KIAA0586, SER77TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797045119 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045119;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=rs797045119" 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=rs797045119" 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=RCV000190840" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190840" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190840</a>
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<p>In a fetus with severe hydrocephaly, polydactyly, and skeletal abnormalities (SRTD14; <a href="/entry/616546">616546</a>) from a consanguineous Lebanese family in which there were multiple early spontaneous abortions, <a href="#1" class="mim-tip-reference" title="Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others. <strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong> Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166481[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.2015.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166481">Alby et al. (2015)</a> identified homozygosity for a c.230C-G transversion (c.230C-G, NM_001244189.1) in exon 2 of the KIAA0536 gene, resulting in a ser77-to-ter (S77X) substitution. The mutation segregated with disease in the family and was not found in 300 Lebanese control chromosomes or in the dbSNP, Exome Variant Server, or ExAC databases. RT-PCR analysis of patient mRNA showed total absence of transcript containing KIAA0586 exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26166481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY</strong>
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KIAA0586, c.1815G-A, EXON 2
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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> rs762081862 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs762081862;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/rs762081862?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=rs762081862" 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=rs762081862" 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=RCV000190841 OR RCV001268478 OR RCV001389448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190841, RCV001268478, RCV001389448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190841...</a>
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<p>In affected members of 3 unrelated Eastern European (Romanian, Hungarian, and Kosovan) families who exhibited cerebral anomalies, polydactyly of the hands and feet, and long-bone shortening, including short ribs (SRTD14; <a href="/entry/616546">616546</a>), <a href="#1" class="mim-tip-reference" title="Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others. <strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong> Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166481[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.2015.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166481">Alby et al. (2015)</a> identified homozygosity for a c.1815G-A transition (c.1815G-A, NM_001244189.1) involving the last base of exon 14 in the KIAA0586 gene, predicted to abolish the intron 14 donor splice site. RT-PCR analysis of mRNA from the 2 Romanian patients confirmed the presence of a unique transcript lacking exon 14, predicted to cause a frameshift resulting in a premature termination codon. The mutation segregated with disease in each family and was not found in the dbSNP, Exome Variant Server, or ExAC databases. Induction of ciliogenesis in patient fibroblasts showed that only 20% presented with cilia at 48 hours compared to 60% of control fibroblasts, and staining for centriolar proteins in patient cells showed an abnormal extended pattern of CEP290 (<a href="/entry/610142">610142</a>) distribution. Analysis of the SHH (<a href="/entry/600725">600725</a>) pathway showed that both PTCH1 (<a href="/entry/601309">601309</a>) and GLI1 (<a href="/entry/165220">165220</a>) were induced at a lower level in mutant fibroblasts than in controls, and there were increased amounts of full-length unprocessed GLI3 (<a href="/entry/165240">165240</a>), suggesting that some of the defects seen in these patients might be due to abnormal SHH signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26166481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Alby2015" class="mim-anchor"></a>
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Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others.
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<strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong>
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Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166481[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=26166481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.06.003" target="_blank">Full Text</a>]
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Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D.
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<strong>KIAA0586 is mutated in Joubert syndrome.</strong>
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Hum. Mutat. 36: 831-835, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26096313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26096313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26096313[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=26096313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22821" target="_blank">Full Text</a>]
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<a id="Davey2006" class="mim-anchor"></a>
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Davey, M. G., Paton, I. R., Yin, Y., Schmidt, M., Bangs, F. K., Morrice, D. R., Smith, T. G., Buxton, P., Stamataki, D., Tanaka, M., Munsterberg, A. E., Briscoe, J., Tickle, C., Burt, D. W.
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<strong>The chicken talpid-3 gene encodes a novel protein essential for Hedgehog signaling.</strong>
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Genes Dev. 20: 1365-1377, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702409[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=16702409" 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/10.1101/gad.369106" target="_blank">Full Text</a>]
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 9/10/2015
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Cassandra L. Kniffin - updated : 7/28/2015
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Patricia A. Hartz : 6/12/2006
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joanna : 02/04/2016
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carol : 9/10/2015<br>mcolton : 8/17/2015<br>carol : 7/29/2015<br>mcolton : 7/28/2015<br>ckniffin : 7/28/2015<br>mgross : 6/12/2006
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TALPID 3, CHICKEN, HOMOLOG OF; TALPID3
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: KIAA0586</em></strong>
|
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</span>
|
|
</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>
|
|
Cytogenetic location: 14q23.1
|
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:58,427,400-58,562,090 </span>
|
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</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
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|
</p>
|
|
</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
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</th>
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|
<th>
|
|
Phenotype <br /> MIM number
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
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|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
14q23.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 23
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616490
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 14 with polydactyly
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616546
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The KIAA0586 gene encodes the homolog of the mouse and chicken TALPID3 gene, which is a centrosomal protein required for ciliogenesis and hedgehog (SHH; 600725) signaling (summary by Bachmann-Gagescu et al., 2015). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1998) cloned KIAA0586. The deduced protein contains 1,533 amino acids. RT-PCR detected moderate expression in kidney only. </p><p>Davey et al. (2006) identified KIAA0586 orthologs in vertebrates only. In chicken, the protein localized to the cytoplasm. </p><p>Alby et al. (2015) tested KIAA0586 expression in various tissues at different human developmental stages and observed specific exon 2-containing transcripts as early as 6 weeks' gestation (Carnegie stage 16). The KIAA0586 transcripts were ubiquitously expressed during fetal development and persisted postnatally in all adult tissues tested. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the KIAA0586 gene to chromosome 14. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Joubert Syndrome 23</em></strong></p><p>
|
|
In affected individuals from 9 unrelated families with Joubert syndrome-23 (JBTS23; 616490), Bachmann-Gagescu et al. (2015) identified homozygous or compound heterozygous mutations in the KIAA0586 gene (see, e.g., 610178.0001-610178.0005). Mutations in the first patient were found by whole-exome sequencing; biallelic mutations in 8 additional families were found by sequencing the exons of the KIAA0586 gene in a cohort of 366 additional families with the disorder. Overall, biallelic mutations were found in 9 (2.5%) of 366 families. Seven additional patients had heterozygous mutations in the KIAA0586 gene. One recurrent truncating mutation (610178.0001) was found in 7 of the 9 families. Functional studies of the variants were not performed. The phenotype was relatively mild and homogeneous, consisting mainly of neurologic features, such as delayed development, abnormal eye movements, and the molar tooth sign on brain imaging. Only 1 patient had polydactyly; none had retinal, renal, or liver involvement. </p><p><strong><em>Short-Rib Thoracic Dysplasia 14 with Polydactyly</em></strong></p><p>
|
|
By targeted next-generation sequencing of candidate ciliary genes in a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities (SRTD14; 616546), Alby et al. (2015) identified homozygosity for a nonsense mutation in the KIAA0586 gene (S77X; 610178.0006) that segregated with disease. Additional next-generation sequencing of ciliary genes in 150 individuals with lethal ciliopathies and various combinations of brain and skeletal abnormalities identified 3 patients from 3 unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (610178.0007). Haplotype analysis in the Romanian, Hungarian, and Kosovan families was consistent with a common ancestor, estimated to hve lived 16 generations (480 years) earlier. Defective ciliogenesis as well as abnormal response to SHH (600725)-signaling activation was observed in patient cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Talpid-3 is a chicken mutant with abnormal limb patterning and malformations in other regions of the embryo that depend on hedgehog (SHH; 600725) signaling. Davey et al. (2006) determined that talpid-3 is due to a frameshift mutation in the chicken ortholog of KIAA0586, leading to a truncated protein. </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 JOUBERT SYNDROME 23</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, 1-BP DEL, 428G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs534542684,
|
|
|
|
|
|
gnomAD: rs534542684,
|
|
|
|
|
|
ClinVar: RCV000186590, RCV000255927, RCV000612898, RCV000652578, RCV001003979, RCV001073225, RCV001193558, RCV001283811, RCV003401022, RCV004984730
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old patient (UW176-3) with Joubert syndrome-23 (JBTS23; 616490), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the KIAA0586 gene: a 1-bp deletion (c.428delG, NM_001244189.1), resulting in a frameshift and premature termination (Arg143LysfsTer4), and a G-to-C transversion (c.1413-1G-C; 610178.0002), resulting in a splice site mutation. The mutations, which were found by whole-exome sequencing, segregated with the disorder in the family and were filtered against the Exome Variant Server database. Direct sequencing of the KIAA0586 gene in a cohort of 366 families with Joubert syndrome found the c.428delG mutation in 6 additional patients: 1 was homozygous for the mutation, whereas the others carried it in compound heterozygosity with another pathogenic mutation (see, e.g., 610178.0003-610178.0004). The c.428delG mutation was found at a frequency of 0.39% in the ExAC and Exome Variant Server databases, but only as a heterozygous variant. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 JOUBERT SYNDROME 23</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, IVSAS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs757350052,
|
|
|
|
|
|
gnomAD: rs757350052,
|
|
|
|
|
|
ClinVar: RCV000186591, RCV000479178, RCV000652577
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1413-1G-C mutation (c.1413-1G-C, NM_001244189.1) in the KIAA0586 gene that was found in compound heterozygous state in a patient with Joubert syndrome-23 (JBTS23; 616490) by Bachmann-Gagescu et al. (2015), see 610178.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 JOUBERT SYNDROME 23</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, GLN387TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs796052128,
|
|
|
|
|
|
gnomAD: rs796052128,
|
|
|
|
|
|
ClinVar: RCV000186592, RCV002272164, RCV003401023
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (UW175-3) with Joubert syndrome-23 (JBTS23; 616490), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the KIAA0586 gene: a c.1159C-T transition (c.1159C-T, NM_001244189.1), resulting in a gln387-to-ter (Q387X) substitution, and c.428delG (610178.0001). Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 JOUBERT SYNDROME 23</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, 2-BP DEL, 863AA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770566897,
|
|
|
|
|
|
gnomAD: rs770566897,
|
|
|
|
|
|
ClinVar: RCV000186593, RCV001003980, RCV001091046, RCV001778778, RCV001852435
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (UW178-3) with Joubert syndrome-23 (JBTS23; 616490), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the KIAA0586 gene: a 2-bp deletion (c.863_864delAA, NM_001244189.1), resulting in a frameshift and premature termination (Gln288ArgfsTer7), and c.428delG (610178.0001). Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 JOUBERT SYNDROME 23</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, ASP566VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs796052129,
|
|
|
|
|
|
gnomAD: rs796052129,
|
|
|
|
|
|
ClinVar: RCV000186594
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (UW180-3) with Joubert syndrome-23 (JBTS23; 616490), Bachmann-Gagescu et al. (2015) identified a homozygous c.1697A-T transversion (c.1697A-T, NM_001244189.1) in the KIAA0586 gene, resulting in an asp566-to-val (D566V) substitution. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, SER77TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797045119,
|
|
|
|
|
|
|
|
ClinVar: RCV000190840
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a fetus with severe hydrocephaly, polydactyly, and skeletal abnormalities (SRTD14; 616546) from a consanguineous Lebanese family in which there were multiple early spontaneous abortions, Alby et al. (2015) identified homozygosity for a c.230C-G transversion (c.230C-G, NM_001244189.1) in exon 2 of the KIAA0536 gene, resulting in a ser77-to-ter (S77X) substitution. The mutation segregated with disease in the family and was not found in 300 Lebanese control chromosomes or in the dbSNP, Exome Variant Server, or ExAC databases. RT-PCR analysis of patient mRNA showed total absence of transcript containing KIAA0586 exon 2. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KIAA0586, c.1815G-A, EXON 2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs762081862,
|
|
|
|
|
|
gnomAD: rs762081862,
|
|
|
|
|
|
ClinVar: RCV000190841, RCV001268478, RCV001389448
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>In affected members of 3 unrelated Eastern European (Romanian, Hungarian, and Kosovan) families who exhibited cerebral anomalies, polydactyly of the hands and feet, and long-bone shortening, including short ribs (SRTD14; 616546), Alby et al. (2015) identified homozygosity for a c.1815G-A transition (c.1815G-A, NM_001244189.1) involving the last base of exon 14 in the KIAA0586 gene, predicted to abolish the intron 14 donor splice site. RT-PCR analysis of mRNA from the 2 Romanian patients confirmed the presence of a unique transcript lacking exon 14, predicted to cause a frameshift resulting in a premature termination codon. The mutation segregated with disease in each family and was not found in the dbSNP, Exome Variant Server, or ExAC databases. Induction of ciliogenesis in patient fibroblasts showed that only 20% presented with cilia at 48 hours compared to 60% of control fibroblasts, and staining for centriolar proteins in patient cells showed an abnormal extended pattern of CEP290 (610142) distribution. Analysis of the SHH (600725) pathway showed that both PTCH1 (601309) and GLI1 (165220) were induced at a lower level in mutant fibroblasts than in controls, and there were increased amounts of full-length unprocessed GLI3 (165240), suggesting that some of the defects seen in these patients might be due to abnormal SHH signaling. </p>
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<strong>REFERENCES</strong>
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Alby, C., Piquand, K., Huber, C., Megarbane, A., Ichkou, A., Legendre, M., Pelluard, F., Encha-Ravazi, F., Abi-Tayeh, G., Bessieres, B., El Chehadeh-Djebbar, S., Laurent, N., and 18 others.
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<strong>Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.</strong>
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Am. J. Hum. Genet. 97: 311-318, 2015. Note: Erratum: Am. J. Hum. Genet. 97: 353 only, 2015.
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[PubMed: 26166481]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.06.003]
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Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenco, C., Arslan, M., University of Washington Center for Mendelian Genomics, Shendure, J., Doherty, D.
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<strong>KIAA0586 is mutated in Joubert syndrome.</strong>
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Hum. Mutat. 36: 831-835, 2015.
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[PubMed: 26096313]
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[Full Text: https://doi.org/10.1002/humu.22821]
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Davey, M. G., Paton, I. R., Yin, Y., Schmidt, M., Bangs, F. K., Morrice, D. R., Smith, T. G., Buxton, P., Stamataki, D., Tanaka, M., Munsterberg, A. E., Briscoe, J., Tickle, C., Burt, D. W.
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<strong>The chicken talpid-3 gene encodes a novel protein essential for Hedgehog signaling.</strong>
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Genes Dev. 20: 1365-1377, 2006.
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[PubMed: 16702409]
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[Full Text: https://doi.org/10.1101/gad.369106]
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: 9628581]
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[Full Text: https://doi.org/10.1093/dnares/5.1.31]
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Marla J. F. O'Neill - updated : 9/10/2015<br>Cassandra L. Kniffin - updated : 7/28/2015
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