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Entry
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- *614571 - CILIOGENESIS AND PLANAR POLARITY EFFECTOR COMPLEX, SUBUNIT 1; CPLANE1
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- OMIM
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<p>
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<span class="h4">*614571</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614571">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000197603;t=ENST00000651892" 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=65250" 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=614571" 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=ENSG00000197603;t=ENST00000651892" 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_001384732,NM_023073,XM_005248346,XM_005248347,XM_005248349,XM_005248350,XM_006714491,XM_011514085,XM_011514086,XM_011514087,XM_011514088,XM_011514090,XM_017009761,XM_017009766,XM_024446183,XM_047417541,XM_047417542,XM_047417543,XM_047417544,XM_047417545,XM_047417547,XM_047417548,XM_047417549,XM_047417550,XM_047417551,XM_047417552,XM_047417553,XM_047417554,XM_047417556,XM_047417557,XM_047417558,XM_047417559,XM_047417560,XM_047417561,XM_047417562,XM_047417563,XM_047417564,XM_047417566,XM_047417567,XM_047417568,XM_047417569,XM_047417570,XM_047417571,XM_047417572,XM_047417573,XM_047417575,XM_047417576,XM_047417577,XM_047417578,XM_047417579" 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_001384732" 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=614571" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/CPLANE1" 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/10435167,10437160,10439656,21756110,50960299,71051489,219841830,223462167,242332527,403314397,530378906,530378908,530378912,530378914,767934548,767934550,767934555,767934557,767934565,1034645835,1034645849,1370503787,1861466448,2217356853,2217356855,2217356857,2217356859,2217356861,2217356864,2217356866,2217356868,2217356870,2217356873,2217356875,2217356877,2217356879,2217356882,2217356884,2217356886,2217356889,2217356891,2217356893,2217356895,2217356897,2217356899,2217356901,2217356904,2217356906,2217356909,2217356911,2217356913,2217356915,2217356917,2217356919,2217356922,2217356924,2217356926,2217356928,2217356930,2462603779,2462603781,2462603783,2462603785,2462603787,2462603789,2462603791,2462603793,2462603795,2462603797,2462603799,2462603801,2462603803,2462603805,2462603807,2462603809,2462603811,2462603813,2462603815,2462603817,2462603819,2462603821,2462603823,2462603825,2462603827,2462603829,2462603831,2462603833,2462603835,2462603837,2462603839,2462603841,2462603843,2462603845,2462603847,2462603849,2462603851,2462603853,2462603855,2462603857,2462603859,2462603861,2462603863,2462603865,2462603867,2462603869,2462603871,2462603873" 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/Q9H799" 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=65250" 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=ENSG00000197603;t=ENST00000651892" 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=CPLANE1" 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=CPLANE1" 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+65250" 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/CPLANE1" 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:65250" 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/65250" 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=chr5&hgg_gene=ENST00000651892.2&hgg_start=37075669&hgg_end=37249376&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25801" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25801" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614571[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=614571[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/CPLANE1/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/ENSG00000197603" 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=CPLANE1" 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=CPLANE1" 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=CPLANE1" 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=CPLANE1&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/PA162380188" 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:25801" 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:1920942" 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/CPLANE1#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:1920942" 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/65250/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/OMIA002912/" 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=65250" 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-091204-92" 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">
|
|
<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=CPLANE1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721873007<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
614571
|
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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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CILIOGENESIS AND PLANAR POLARITY EFFECTOR COMPLEX, SUBUNIT 1; CPLANE1
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CILIOGENESIS AND PLANAR POLARITY EFFECTOR 1<br />
|
|
CHROMOSOME 5 OPEN READING FRAME 42; C5ORF42
|
|
</span>
|
|
</h4>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CPLANE1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CPLANE1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/116?start=-3&limit=10&highlight=116">5p13.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:37075669-37249376&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'})">5:37,075,669-37,249,376</a> </span>
|
|
</em>
|
|
</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>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614615,277170" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/116?start=-3&limit=10&highlight=116">
|
|
5p13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 17
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614615"> 614615 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</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>
|
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</td>
|
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p><a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> stated that the deduced 3,198-amino acid C5ORF42 protein exhibits features of a transmembrane protein and has a putative coiled-coil region. Analysis of EST, microarray, and other databases predicted widespread expression of C5ORF42, including in brain. <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> identified an alternative exon, exon 40a, and RNA sequencing data suggested elevated expression of C5ORF42 transcripts containing exon 40a in brain and testis. Close orthologs of C5ORF42 were detected in several vertebrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunohistochemical analysis of mouse embryonic fibroblasts and IMCD3 collecting duct cells, <a href="#1" class="mim-tip-reference" title="Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W. <strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong> Hum. Molec. Genet. 24: 3994-4005, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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/10.1093/hmg/ddv137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877302">Damerla et al. (2015)</a> found that C5orf42, which they called Jbts17, colocalized with Nphp1 (<a href="/entry/607100">607100</a>) in the ciliary transition zone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> determined that the C5ORF42 gene contains at least 53 exons, including an alternative exon, exon 40a, located between exons 40 and 41. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 4/16/2012."None>Hartz (2012)</a> mapped the C5ORF42 gene to chromosome 5p13.2 based on an alignment of the C5ORF42 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL832176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL832176</a>) with the genomic sequence (GRCh37).</p><p><a href="#1" class="mim-tip-reference" title="Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W. <strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong> Hum. Molec. Genet. 24: 3994-4005, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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/10.1093/hmg/ddv137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877302">Damerla et al. (2015)</a> mapped the mouse C5orf42 gene to chromosome 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In Xenopus embryos in which C5orf42 had been knocked down by morpholino oligonucleotides (MOs), <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> observed ciliopathy-related developmental defects, including failure of neural tube closure, defective Hedgehog (see <a href="/entry/600725">600725</a>) signaling, and defective left-right patterning. Immunostaining demonstrated that ciliogenesis was disrupted in the developing neural tube, in the node, and in multiciliated cells. CRISPR-based disruption of C5orf42 also disrupted ciliogenesis, and coinjection with wildtype C5orf42 mRNA rescued both the neural tube and ciliogenesis defects resulting from MO-based knockdown. In mice, <a href="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> showed that C5orf42 knockdown specifically disrupted recruitment of peripheral IFTA subunits to the basal body, but recruitment of IFTA core proteins or IFTB components was not affected. Kymography showed that both peripheral and core components of IFTB formed stationary accumulations, and quantitative microscopy confirmed significant enrichment of total IFTB levels in the axoneme. Peripheral IFTA proteins that were not recruited to basal bodies were absent from axonemes after C5orf42 knockdown, whereas IFTA core proteins were present at normal levels in axonemes and underwent bidirectional transport. The authors suggested that the so-called CPLANE (ciliogenesis and planar polarity effector) proteins, including C5ORF42, are involved in recruiting peripheral IFTA proteins to the basal body for assembly onto the IFTA core. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" 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>Using knockdown analysis, <a href="#4" class="mim-tip-reference" title="Hong, H., Joo, K., Park, S. M., Seo, J., Kim, M. H., Shin, E. Cheong, H. I., Lee, J. H., Kim, J. <strong>Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.</strong> Ann. Neurol. 86: 99-115, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31004438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31004438</a>] [<a href="https://doi.org/10.1002/ana.25491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31004438">Hong et al. (2019)</a> found that human JBTS17 was required for cilium assembly in ciliated cells. In nonciliated cycling cells, JBTS17 was detected in the nuclear envelope and nucleus of a subset of interphase cells. Upon entry into mitosis, JBTS17 localized to the kinetochore. JBTS17 protein levels were regulated by cell-cycle-dependent proteolysis. Immunoprecipitation analysis confirmed that C-terminal Joubert syndrome-associated conserved domain (JCD) of JBTS17 mediated JBTS17 kinetochore localization by interacting with the kinetochore component NDC80 (<a href="/entry/607272">607272</a>). JBTS17 was required for proper establishment of metaphase chromosome alignment, and knockdown of JBTS17 resulted in chromosome misalignment and delayed metaphase-anaphase transition in HeLa cells. JBTS17 also physically interacted with LIS1 via its JCD and contributed to the localization and stability of LIS1, thereby maintaining normal spindle orientation during mitosis. Knockdown of Jbts17 caused mitotic arrest of progenitor cells and defects in neuronal migration in cerebral cortex in developing mouse brain, and overexpression of Lis1 partially rescued the defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31004438" 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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In affected individuals from 7 French Canadian families with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> identified 6 different potentially pathogenic mutations in the C5ORF42 gene (<a href="#0001">614571.0001</a>-<a href="#0006">614571.0006</a>). The mutations were found by exome sequencing and confirmed by Sanger sequencing. All patients showed global developmental delay, with the onset of independent walking between 30 months and 8 years of age. Cognitive impairment was present in all individuals but was variable, ranging from borderline intelligence to mild intellectual disability. Most also showed oculomotor apraxia and breathing abnormalities, mainly episodic hyperventilation. Two individuals showed limb abnormalities; 1 had preaxial and postaxial polydactyly, and another had syndactyly of the third and fourth fingers on 1 hand. None had evidence of retinal or kidney involvement. Three of the mutations were found in multiple families, and haplotype analysis showed that each was linked to a distinct haplotype. The higher frequency of these mutations in the Lower St. Lawrence region might be explained by a founder effect with the coincidental occurrence of the 3 mutations in the same group of settlers, or by multiple regional founder effects corresponding to sequential pioneer fronts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" 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>Orofaciodigital Syndrome VI</em></strong></p><p>
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In 12 patients from 9 of 11 unrelated families with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>), <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a> identified 14 different homozygous or compound heterozygous mutations in the C5ORF42 gene (see, e.g., <a href="#0007">614571.0007</a>-<a href="#0011">614571.0011</a>). Mutations in the first 6 families were found by exome sequencing; in the remaining 3 families, they were found by direct sequencing of the C5ORF42 gene in 9 additional probands with a clinical diagnosis of OFD6 or a similar disorder. There were 4 frameshift, 3 nonsense, 5 missense, and 2 splice site mutations, suggesting that at least 1 truncating mutation is necessary to induce the phenotype. However, functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the C5ORF42 gene and monomelic amyotrophy, see <a href="/entry/602440">602440</a>.</p>
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<p>Using fetal ultrasound biomicroscopy, <a href="#1" class="mim-tip-reference" title="Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W. <strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong> Hum. Molec. Genet. 24: 3994-4005, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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/10.1093/hmg/ddv137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877302">Damerla et al. (2015)</a> screened N-ethylnitrosourea-generated mouse mutants for congenital heart disease and identified 'heart under glass' (hug) mutant mice with agenesis of the rib cage. Hug mutants had multiple developmental defects that caused prenatal mortality, including skeletal dysplasia, craniofacial defects, polydactyly, cystic kidneys, and cerebellar hypoplasia. Hug mutants and cultured fibroblasts showed perturbed hedgehog signaling (see SHH, <a href="/entry/600725">600725</a>). However, hug cochlea had normal stereocilia and kinocilia, and hug neural tube had normal dorsoventral patterning. <a href="#1" class="mim-tip-reference" title="Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W. <strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong> Hum. Molec. Genet. 24: 3994-4005, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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/10.1093/hmg/ddv137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877302">Damerla et al. (2015)</a> identified the hug mutation as a homozygous 757T-C transition in the C5orf42 gene that results in a ser253-to-phe (S253F) substitution in a highly conserved residue in the Jbts17 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614571[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs367543061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543061;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/rs367543061?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=rs367543061" 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=rs367543061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 French Canadian patients with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> identified a heterozygous 4006C-T transition in the C5ORF42 gene, resulting in an arg1336-to-trp (R1336W) substitution in a highly conserved residue. Each patient was compound heterozygous for R1336W and another pathogenic mutation in the C5ORF42 gene. Three families, including 2 sibs from the original family reported by <a href="#5" class="mim-tip-reference" title="Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F. <strong>Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.</strong> Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816874</a>] [<a href="https://doi.org/10.1212/wnl.19.9.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5816874">Joubert et al. (1969)</a>, carried a G-to-A transition in intron 35 on the other allele (7400+1G-A; <a href="#0002">614571.0002</a>), which was demonstrated to cause skipping of exon 35 and premature termination. A fourth patient carried R1336W and a 1-bp deletion (6407del; <a href="#0003">614571.0003</a>) on the other allele, which was predicted to cause a frameshift and premature termination. The fifth patient carried R1336W and a 4804C-T transition resulting in an arg1602-to-ter (R1602X; <a href="#0004">614571.0004</a>) substitution on the other allele. All the variants were identified by whole-exome sequencing and confirmed by Sanger sequencing. None of the mutations were found in 261 control exomes, in the 1,000 Genomes Browser, or in 477 French Canadian controls. R1336W was found in the heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project dataset, with a minor allele frequency of 0.0186% (2 of 10,754 alleles). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816874+22425360" 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="Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W. <strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong> Hum. Molec. Genet. 24: 3994-4005, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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/10.1093/hmg/ddv137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877302">Damerla et al. (2015)</a> showed that fibroblasts cultured from a compound heterozygous JBTS17 patient with the R1336W substitution and 7400+1G-A failed to develop cilia upon serum withdrawal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024219 OR RCV000763545 OR RCV004526599" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024219, RCV000763545, RCV004526599" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024219...</a>
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<p>For discussion of the donor splice site mutation (7411+1G-A) in intron 35 of the C5ORF42 gene that was found in compound heterozygous state in 3 families with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>) by <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a>, see <a href="#0001">614571.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 JOUBERT SYNDROME 17</strong>
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CPLANE1, 1-BP DEL, NT6407
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs367543064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543064;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=rs367543064" 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=rs367543064" 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=RCV000024220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024220</a>
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<p>For discussion of the 1-bp deletion (6407del) in the C5ORF42 gene that was found in compound heterozygous state in a patient with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>) by <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a>, see <a href="#0001">614571.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<strong>.0004 JOUBERT SYNDROME 17</strong>
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CPLANE1, ARG1602TER
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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> rs367543063 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543063;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/rs367543063?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=rs367543063" 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=rs367543063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024221 OR RCV001781313 OR RCV002496440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024221, RCV001781313, RCV002496440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024221...</a>
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<p>For discussion of the 4804C-T transition in the C5ORF42 gene, resulting in an arg1602-to-ter (R1602X) substitution, that was found in compound heterozygous state in a patient with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>) by <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a>, see <a href="#0001">614571.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" 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="#8" class="mim-tip-reference" title="Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others. <strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong> Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27158779">Toriyama et al. (2016)</a> analyzed the Xenopus cognate of the human R1602X mutation, R1569X, and found that the mutant C5orf42 failed to localize to basal bodies and could not rescue neural tube defects that were rescued by wildtype C5orf42. Unlike the wildtype protein, the R1569 mutant could not rescue basal body recruitment of Intu (<a href="/entry/610621">610621</a>) after C5orf42 knockdown. The authors concluded that this JBTS-associated variant fails to support localization and function of the so-called CPLANE (ciliogenesis and planar polarity effector) proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27158779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 JOUBERT SYNDROME 17</strong>
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CPLANE1, ARG2493TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139675596;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139675596</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs139675596 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139675596;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/rs139675596?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=rs139675596" 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=rs139675596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024222 OR RCV000763544 OR RCV001551136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024222, RCV000763544, RCV001551136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024222...</a>
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<p>In a French Canadian patient with Joubert syndrome-17 (JBTS17; <a href="/entry/614615">614615</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> identified compound heterozygosity for 2 variations in the C5ORF42 gene: a 7477C-T transition, resulting in an arg2493-to-ter (R2493X) substitution, and A1564T (<a href="#0006">614571.0006</a>). The R2493X mutation was not found in 261 control exomes, in the 1000 Genomes Project database, or in 477 French Canadian controls. However, it was found in the heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project dataset, with a minor allele frequency of 0.009% (1 of 10,755 alleles), and designated <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139675596;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139675596</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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CPLANE1, ALA1564THR (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111294855;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs111294855</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111294855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111294855;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/rs111294855?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=rs111294855" 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=rs111294855" 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=RCV000034938 OR RCV003326332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034938, RCV003326332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034938...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Joubert syndrome (JBTS17; <a href="/entry/614615">614615</a>) has not been confirmed.</p><p>In 4 patients from 3 unrelated French Canadian families with Joubert syndrome, <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> identified a heterozygous 4690G-A transition in exon 40a of the C5ORF42 gene, resulting in an ala1564-to-thr (A1564T) substitution. Each patient carried another pathogenic mutation in the C5ORF42 gene on the other allele (see, e.g., <a href="#0001">614571.0001</a>). The A1564T substitution was not found in 261 control exomes, in the 1000 Genomes Project database, or in 477 French Canadian controls. However, it was found in heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project database, with a minor allele frequency of 0.262% (12 of 4,574 alleles). This variant has been designated <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111294855;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs111294855</a>. It was not possible to predict the effect of the A1564T substitution because the corresponding exon was not annotated across species, and <a href="#7" class="mim-tip-reference" title="Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong> Am. J. Hum. Genet. 90: 693-700, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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.2012.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22425360">Srour et al. (2012)</a> noted that it is possible that this variant may be linked to another pathogenic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22425360" 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">rs606231258 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231258;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=rs606231258" 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=rs606231258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Iraqi Kurdish sisters with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>), <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a> identified a homozygous G-to-T transversion (c.3150-1G-T) in a splice acceptor site in exon 18 of the C5ORF42 gene. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" 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> rs606231259 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231259;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/rs606231259?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=rs606231259" 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=rs606231259" 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=RCV000144858 OR RCV000193986 OR RCV000521986 OR RCV000646709" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144858, RCV000193986, RCV000521986, RCV000646709" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144858...</a>
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<p>In a 10-year-old girl of French and Portuguese descent with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>), originally reported by <a href="#2" class="mim-tip-reference" title="Darmency-Stamboul, V., Burglen, L., Lopez, E., Mejean, N., Dean, J., Franco, B., Rodriguez, D., Lacombe, D., Desguerres, I., Cormier-Daire, V., Doray, B., Pasquier, L., and 10 others. <strong>Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.</strong> Europ. J. Med. Genet. 56: 301-308, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23523602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23523602</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23523602">Darmency-Stamboul et al. (2013)</a>, <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a> identified compound heterozygous mutations in the C5ORF42 gene: a 1-bp deletion (c.493delA) in exon 5, resulting in a frameshift and premature termination (Ile165TyrfsTer17), and an A-to-G transition (c.3290-2A-G; <a href="#0009">614571.0009</a>) in an acceptor splice site in intron 19. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24178751+23523602" 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">rs606231260 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231260;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=rs606231260" 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=rs606231260" 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=RCV000144859 OR RCV005031649" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144859, RCV005031649" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144859...</a>
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<p>For discussion of the acceptor splice site mutation (c.3290-2A-G) in the C5ORF42 gene that was found in compound heterozygous state in a patient with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>) by <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a>, see <a href="#0008">614571.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" 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> rs375009168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375009168;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/rs375009168?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=rs375009168" 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=rs375009168" 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=RCV000144860 OR RCV000501748 OR RCV000521353" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144860, RCV000501748, RCV000521353" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144860...</a>
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<p>In 2 French sib fetuses with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>), <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a> identified compound heterozygous mutations in the C5ORF42 gene: a c.3380C-T transition in exon 19, resulting in a ser1127-to-leu (S1127L) substitution, and a c.3859G-C transversion in exon 22, resulting in an asp1287-to-his (D1287H; <a href="#0011">614571.0011</a>) substitution. Each unaffected parent was heterozygous for 1 of the mutations. The S1127L mutation was found in compound heterozygosity with a truncating C5ORF42 mutation (<a href="#0008">614571.0008</a>) in another French fetus with OFD6, and haplotype analysis suggested a founder effect for S1127L. Functional studies of the variants were not performed, but in silico analysis suggested that the missense mutations may affect splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" 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> rs606231261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231261;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/rs606231261?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=rs606231261" 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=rs606231261" 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=RCV000144861 OR RCV001588993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144861, RCV001588993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144861...</a>
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<p>For discussion of the c.3859G-C transversion in exon 22 of the C5ORF42 gene, resulting in an asp1287-to-his (D1287H) substitution, that was found in compound heterozygous state in 2 sib fetuses with orofaciodigital syndrome VI (OFD6; <a href="/entry/277170">277170</a>) by <a href="#6" class="mim-tip-reference" title="Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others. <strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong> Hum. Genet. 133: 367-377, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>] [<a href="https://doi.org/10.1007/s00439-013-1385-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24178751">Lopez et al. (2014)</a>, see <a href="#0010">614571.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Damerla2015" class="mim-anchor"></a>
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Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W.
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<strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong>
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Hum. Molec. Genet. 24: 3994-4005, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25877302[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=25877302" 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/hmg/ddv137" target="_blank">Full Text</a>]
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<a id="Darmency-Stamboul2013" class="mim-anchor"></a>
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Darmency-Stamboul, V., Burglen, L., Lopez, E., Mejean, N., Dean, J., Franco, B., Rodriguez, D., Lacombe, D., Desguerres, I., Cormier-Daire, V., Doray, B., Pasquier, L., and 10 others.
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<strong>Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.</strong>
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Europ. J. Med. Genet. 56: 301-308, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23523602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23523602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23523602" 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.ejmg.2013.03.004" target="_blank">Full Text</a>]
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<a id="Hartz2012" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/16/2012.
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<a id="Hong2019" class="mim-anchor"></a>
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Hong, H., Joo, K., Park, S. M., Seo, J., Kim, M. H., Shin, E. Cheong, H. I., Lee, J. H., Kim, J.
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<strong>Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.</strong>
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Ann. Neurol. 86: 99-115, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31004438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31004438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31004438" 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/ana.25491" target="_blank">Full Text</a>]
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Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F.
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<strong>Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.</strong>
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Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5816874" 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/10.1212/wnl.19.9.813" target="_blank">Full Text</a>]
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Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others.
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<strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong>
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Hum. Genet. 133: 367-377, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24178751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24178751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24178751" 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/10.1007/s00439-013-1385-1" target="_blank">Full Text</a>]
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Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L.
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<strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong>
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Am. J. Hum. Genet. 90: 693-700, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22425360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22425360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22425360[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=22425360" 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.2012.02.011" target="_blank">Full Text</a>]
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<a id="Toriyama2016" class="mim-anchor"></a>
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Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others.
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<strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong>
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Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27158779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27158779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27158779[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=27158779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3558" target="_blank">Full Text</a>]
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Bao Lige - updated : 08/06/2019
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Marla J. F. O'Neill - updated : 03/30/2018<br>Patricia A. Hartz - updated : 11/08/2017<br>Cassandra L. Kniffin - updated : 10/30/2014<br>Cassandra L. Kniffin - updated : 5/1/2012
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Patricia A. Hartz : 4/16/2012
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mgross : 08/24/2023
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alopez : 09/24/2020<br>mgross : 08/06/2019<br>alopez : 08/31/2018<br>carol : 04/19/2018<br>carol : 04/02/2018<br>carol : 03/30/2018<br>carol : 01/08/2018<br>carol : 01/04/2018<br>alopez : 11/08/2017<br>carol : 11/05/2014<br>mcolton : 11/4/2014<br>ckniffin : 10/30/2014<br>carol : 9/11/2013<br>carol : 6/5/2012<br>ckniffin : 5/24/2012<br>carol : 5/3/2012<br>terry : 5/3/2012<br>ckniffin : 5/1/2012<br>ckniffin : 5/1/2012<br>mgross : 4/16/2012
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CPLANE1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 721873007;
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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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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 5p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:37,075,669-37,249,376 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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5p13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 17
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</span>
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</td>
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<td>
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<span class="mim-font">
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614615
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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3
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Orofaciodigital syndrome VI
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
277170
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Srour et al. (2012) stated that the deduced 3,198-amino acid C5ORF42 protein exhibits features of a transmembrane protein and has a putative coiled-coil region. Analysis of EST, microarray, and other databases predicted widespread expression of C5ORF42, including in brain. Srour et al. (2012) identified an alternative exon, exon 40a, and RNA sequencing data suggested elevated expression of C5ORF42 transcripts containing exon 40a in brain and testis. Close orthologs of C5ORF42 were detected in several vertebrates. </p><p>By immunohistochemical analysis of mouse embryonic fibroblasts and IMCD3 collecting duct cells, Damerla et al. (2015) found that C5orf42, which they called Jbts17, colocalized with Nphp1 (607100) in the ciliary transition zone. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Srour et al. (2012) determined that the C5ORF42 gene contains at least 53 exons, including an alternative exon, exon 40a, located between exons 40 and 41. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2012) mapped the C5ORF42 gene to chromosome 5p13.2 based on an alignment of the C5ORF42 sequence (GenBank AL832176) with the genomic sequence (GRCh37).</p><p>Damerla et al. (2015) mapped the mouse C5orf42 gene to chromosome 15. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>In Xenopus embryos in which C5orf42 had been knocked down by morpholino oligonucleotides (MOs), Toriyama et al. (2016) observed ciliopathy-related developmental defects, including failure of neural tube closure, defective Hedgehog (see 600725) signaling, and defective left-right patterning. Immunostaining demonstrated that ciliogenesis was disrupted in the developing neural tube, in the node, and in multiciliated cells. CRISPR-based disruption of C5orf42 also disrupted ciliogenesis, and coinjection with wildtype C5orf42 mRNA rescued both the neural tube and ciliogenesis defects resulting from MO-based knockdown. In mice, Toriyama et al. (2016) showed that C5orf42 knockdown specifically disrupted recruitment of peripheral IFTA subunits to the basal body, but recruitment of IFTA core proteins or IFTB components was not affected. Kymography showed that both peripheral and core components of IFTB formed stationary accumulations, and quantitative microscopy confirmed significant enrichment of total IFTB levels in the axoneme. Peripheral IFTA proteins that were not recruited to basal bodies were absent from axonemes after C5orf42 knockdown, whereas IFTA core proteins were present at normal levels in axonemes and underwent bidirectional transport. The authors suggested that the so-called CPLANE (ciliogenesis and planar polarity effector) proteins, including C5ORF42, are involved in recruiting peripheral IFTA proteins to the basal body for assembly onto the IFTA core. </p><p>Using knockdown analysis, Hong et al. (2019) found that human JBTS17 was required for cilium assembly in ciliated cells. In nonciliated cycling cells, JBTS17 was detected in the nuclear envelope and nucleus of a subset of interphase cells. Upon entry into mitosis, JBTS17 localized to the kinetochore. JBTS17 protein levels were regulated by cell-cycle-dependent proteolysis. Immunoprecipitation analysis confirmed that C-terminal Joubert syndrome-associated conserved domain (JCD) of JBTS17 mediated JBTS17 kinetochore localization by interacting with the kinetochore component NDC80 (607272). JBTS17 was required for proper establishment of metaphase chromosome alignment, and knockdown of JBTS17 resulted in chromosome misalignment and delayed metaphase-anaphase transition in HeLa cells. JBTS17 also physically interacted with LIS1 via its JCD and contributed to the localization and stability of LIS1, thereby maintaining normal spindle orientation during mitosis. Knockdown of Jbts17 caused mitotic arrest of progenitor cells and defects in neuronal migration in cerebral cortex in developing mouse brain, and overexpression of Lis1 partially rescued the defects. </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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|
|
<span class="mim-text-font">
|
|
<p><strong><em>Joubert Syndrome 17</em></strong></p><p>
|
|
In affected individuals from 7 French Canadian families with Joubert syndrome-17 (JBTS17; 614615), Srour et al. (2012) identified 6 different potentially pathogenic mutations in the C5ORF42 gene (614571.0001-614571.0006). The mutations were found by exome sequencing and confirmed by Sanger sequencing. All patients showed global developmental delay, with the onset of independent walking between 30 months and 8 years of age. Cognitive impairment was present in all individuals but was variable, ranging from borderline intelligence to mild intellectual disability. Most also showed oculomotor apraxia and breathing abnormalities, mainly episodic hyperventilation. Two individuals showed limb abnormalities; 1 had preaxial and postaxial polydactyly, and another had syndactyly of the third and fourth fingers on 1 hand. None had evidence of retinal or kidney involvement. Three of the mutations were found in multiple families, and haplotype analysis showed that each was linked to a distinct haplotype. The higher frequency of these mutations in the Lower St. Lawrence region might be explained by a founder effect with the coincidental occurrence of the 3 mutations in the same group of settlers, or by multiple regional founder effects corresponding to sequential pioneer fronts. </p><p><strong><em>Orofaciodigital Syndrome VI</em></strong></p><p>
|
|
In 12 patients from 9 of 11 unrelated families with orofaciodigital syndrome VI (OFD6; 277170), Lopez et al. (2014) identified 14 different homozygous or compound heterozygous mutations in the C5ORF42 gene (see, e.g., 614571.0007-614571.0011). Mutations in the first 6 families were found by exome sequencing; in the remaining 3 families, they were found by direct sequencing of the C5ORF42 gene in 9 additional probands with a clinical diagnosis of OFD6 or a similar disorder. There were 4 frameshift, 3 nonsense, 5 missense, and 2 splice site mutations, suggesting that at least 1 truncating mutation is necessary to induce the phenotype. However, functional studies of the variants were not performed. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between variation in the C5ORF42 gene and monomelic amyotrophy, see 602440.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using fetal ultrasound biomicroscopy, Damerla et al. (2015) screened N-ethylnitrosourea-generated mouse mutants for congenital heart disease and identified 'heart under glass' (hug) mutant mice with agenesis of the rib cage. Hug mutants had multiple developmental defects that caused prenatal mortality, including skeletal dysplasia, craniofacial defects, polydactyly, cystic kidneys, and cerebellar hypoplasia. Hug mutants and cultured fibroblasts showed perturbed hedgehog signaling (see SHH, 600725). However, hug cochlea had normal stereocilia and kinocilia, and hug neural tube had normal dorsoventral patterning. Damerla et al. (2015) identified the hug mutation as a homozygous 757T-C transition in the C5orf42 gene that results in a ser253-to-phe (S253F) substitution in a highly conserved residue in the Jbts17 protein. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 JOUBERT SYNDROME 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPLANE1, ARG1336TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs367543061,
|
|
|
|
|
|
gnomAD: rs367543061,
|
|
|
|
|
|
ClinVar: RCV000024218, RCV000522403, RCV002271377, RCV003444055, RCV005031455
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 French Canadian patients with Joubert syndrome-17 (JBTS17; 614615), Srour et al. (2012) identified a heterozygous 4006C-T transition in the C5ORF42 gene, resulting in an arg1336-to-trp (R1336W) substitution in a highly conserved residue. Each patient was compound heterozygous for R1336W and another pathogenic mutation in the C5ORF42 gene. Three families, including 2 sibs from the original family reported by Joubert et al. (1969), carried a G-to-A transition in intron 35 on the other allele (7400+1G-A; 614571.0002), which was demonstrated to cause skipping of exon 35 and premature termination. A fourth patient carried R1336W and a 1-bp deletion (6407del; 614571.0003) on the other allele, which was predicted to cause a frameshift and premature termination. The fifth patient carried R1336W and a 4804C-T transition resulting in an arg1602-to-ter (R1602X; 614571.0004) substitution on the other allele. All the variants were identified by whole-exome sequencing and confirmed by Sanger sequencing. None of the mutations were found in 261 control exomes, in the 1,000 Genomes Browser, or in 477 French Canadian controls. R1336W was found in the heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project dataset, with a minor allele frequency of 0.0186% (2 of 10,754 alleles). </p><p>Damerla et al. (2015) showed that fibroblasts cultured from a compound heterozygous JBTS17 patient with the R1336W substitution and 7400+1G-A failed to develop cilia upon serum withdrawal. </p>
|
|
</span>
|
|
</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 JOUBERT SYNDROME 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPLANE1, IVS35DS, G-A, +1
|
|
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|
|
|
<br />
|
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|
|
SNP: rs367543062,
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|
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gnomAD: rs367543062,
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|
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ClinVar: RCV000024219, RCV000763545, RCV004526599
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|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the donor splice site mutation (7411+1G-A) in intron 35 of the C5ORF42 gene that was found in compound heterozygous state in 3 families with Joubert syndrome-17 (JBTS17; 614615) by Srour et al. (2012), see 614571.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 JOUBERT SYNDROME 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPLANE1, 1-BP DEL, NT6407
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs367543064,
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|
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ClinVar: RCV000024220
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (6407del) in the C5ORF42 gene that was found in compound heterozygous state in a patient with Joubert syndrome-17 (JBTS17; 614615) by Srour et al. (2012), see 614571.0001. </p>
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|
</span>
|
|
</div>
|
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<div>
|
|
<br />
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|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 JOUBERT SYNDROME 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPLANE1, ARG1602TER
|
|
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|
|
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<br />
|
|
|
|
SNP: rs367543063,
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|
|
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gnomAD: rs367543063,
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|
|
|
|
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ClinVar: RCV000024221, RCV001781313, RCV002496440
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 4804C-T transition in the C5ORF42 gene, resulting in an arg1602-to-ter (R1602X) substitution, that was found in compound heterozygous state in a patient with Joubert syndrome-17 (JBTS17; 614615) by Srour et al. (2012), see 614571.0001. </p><p>Toriyama et al. (2016) analyzed the Xenopus cognate of the human R1602X mutation, R1569X, and found that the mutant C5orf42 failed to localize to basal bodies and could not rescue neural tube defects that were rescued by wildtype C5orf42. Unlike the wildtype protein, the R1569 mutant could not rescue basal body recruitment of Intu (610621) after C5orf42 knockdown. The authors concluded that this JBTS-associated variant fails to support localization and function of the so-called CPLANE (ciliogenesis and planar polarity effector) proteins. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 JOUBERT SYNDROME 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPLANE1, ARG2493TER ({dbSNP rs139675596})
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<br />
|
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|
|
SNP: rs139675596,
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gnomAD: rs139675596,
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|
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ClinVar: RCV000024222, RCV000763544, RCV001551136
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
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<p>In a French Canadian patient with Joubert syndrome-17 (JBTS17; 614615), Srour et al. (2012) identified compound heterozygosity for 2 variations in the C5ORF42 gene: a 7477C-T transition, resulting in an arg2493-to-ter (R2493X) substitution, and A1564T (614571.0006). The R2493X mutation was not found in 261 control exomes, in the 1000 Genomes Project database, or in 477 French Canadian controls. However, it was found in the heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project dataset, with a minor allele frequency of 0.009% (1 of 10,755 alleles), and designated rs139675596. </p>
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<h4>
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<span class="mim-font">
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<strong>.0006 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPLANE1, ALA1564THR ({dbSNP rs111294855})
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<br />
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SNP: rs111294855,
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gnomAD: rs111294855,
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ClinVar: RCV000034938, RCV003326332
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</span>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Joubert syndrome (JBTS17; 614615) has not been confirmed.</p><p>In 4 patients from 3 unrelated French Canadian families with Joubert syndrome, Srour et al. (2012) identified a heterozygous 4690G-A transition in exon 40a of the C5ORF42 gene, resulting in an ala1564-to-thr (A1564T) substitution. Each patient carried another pathogenic mutation in the C5ORF42 gene on the other allele (see, e.g., 614571.0001). The A1564T substitution was not found in 261 control exomes, in the 1000 Genomes Project database, or in 477 French Canadian controls. However, it was found in heterozygous state in the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project database, with a minor allele frequency of 0.262% (12 of 4,574 alleles). This variant has been designated rs111294855. It was not possible to predict the effect of the A1564T substitution because the corresponding exon was not annotated across species, and Srour et al. (2012) noted that it is possible that this variant may be linked to another pathogenic mutation. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0007 OROFACIODIGITAL SYNDROME VI</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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CPLANE1, IVS18AS, G-T, -1
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<br />
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SNP: rs606231258,
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ClinVar: RCV000144857, RCV003314566
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Iraqi Kurdish sisters with orofaciodigital syndrome VI (OFD6; 277170), Lopez et al. (2014) identified a homozygous G-to-T transversion (c.3150-1G-T) in a splice acceptor site in exon 18 of the C5ORF42 gene. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 OROFACIODIGITAL SYNDROME VI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPLANE1, 1-BP DEL, 493A
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<br />
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SNP: rs606231259,
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gnomAD: rs606231259,
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ClinVar: RCV000144858, RCV000193986, RCV000521986, RCV000646709
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-year-old girl of French and Portuguese descent with orofaciodigital syndrome VI (OFD6; 277170), originally reported by Darmency-Stamboul et al. (2013), Lopez et al. (2014) identified compound heterozygous mutations in the C5ORF42 gene: a 1-bp deletion (c.493delA) in exon 5, resulting in a frameshift and premature termination (Ile165TyrfsTer17), and an A-to-G transition (c.3290-2A-G; 614571.0009) in an acceptor splice site in intron 19. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 OROFACIODIGITAL SYNDROME VI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPLANE1, IVS19AS, A-G, -2
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<br />
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SNP: rs606231260,
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ClinVar: RCV000144859, RCV005031649
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the acceptor splice site mutation (c.3290-2A-G) in the C5ORF42 gene that was found in compound heterozygous state in a patient with orofaciodigital syndrome VI (OFD6; 277170) by Lopez et al. (2014), see 614571.0008. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 OROFACIODIGITAL SYNDROME VI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPLANE1, SER1127LEU
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<br />
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SNP: rs375009168,
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gnomAD: rs375009168,
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ClinVar: RCV000144860, RCV000501748, RCV000521353
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 2 French sib fetuses with orofaciodigital syndrome VI (OFD6; 277170), Lopez et al. (2014) identified compound heterozygous mutations in the C5ORF42 gene: a c.3380C-T transition in exon 19, resulting in a ser1127-to-leu (S1127L) substitution, and a c.3859G-C transversion in exon 22, resulting in an asp1287-to-his (D1287H; 614571.0011) substitution. Each unaffected parent was heterozygous for 1 of the mutations. The S1127L mutation was found in compound heterozygosity with a truncating C5ORF42 mutation (614571.0008) in another French fetus with OFD6, and haplotype analysis suggested a founder effect for S1127L. Functional studies of the variants were not performed, but in silico analysis suggested that the missense mutations may affect splicing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0011 OROFACIODIGITAL SYNDROME VI</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPLANE1, ASP1287HIS
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<br />
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SNP: rs606231261,
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gnomAD: rs606231261,
|
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ClinVar: RCV000144861, RCV001588993
|
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the c.3859G-C transversion in exon 22 of the C5ORF42 gene, resulting in an asp1287-to-his (D1287H) substitution, that was found in compound heterozygous state in 2 sib fetuses with orofaciodigital syndrome VI (OFD6; 277170) by Lopez et al. (2014), see 614571.0010. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Damerla, R. R., Cui, C., Gabriel, G. C., Liu, X., Craige, B., Gibbs, B. C., Francis, R., Li, Y., Chatterjee, B., San Agustin, J. T., Eguether, T., Subramanian, R., Witman, G. B., Michaud, J. L., Pazour, G. J., Lo, C. W.
|
|
<strong>Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.</strong>
|
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Hum. Molec. Genet. 24: 3994-4005, 2015.
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[PubMed: 25877302]
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[Full Text: https://doi.org/10.1093/hmg/ddv137]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Darmency-Stamboul, V., Burglen, L., Lopez, E., Mejean, N., Dean, J., Franco, B., Rodriguez, D., Lacombe, D., Desguerres, I., Cormier-Daire, V., Doray, B., Pasquier, L., and 10 others.
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<strong>Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.</strong>
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Europ. J. Med. Genet. 56: 301-308, 2013.
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[PubMed: 23523602]
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[Full Text: https://doi.org/10.1016/j.ejmg.2013.03.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/16/2012.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hong, H., Joo, K., Park, S. M., Seo, J., Kim, M. H., Shin, E. Cheong, H. I., Lee, J. H., Kim, J.
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<strong>Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.</strong>
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Ann. Neurol. 86: 99-115, 2019.
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[PubMed: 31004438]
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[Full Text: https://doi.org/10.1002/ana.25491]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F.
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<strong>Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.</strong>
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Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.
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[PubMed: 5816874]
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[Full Text: https://doi.org/10.1212/wnl.19.9.813]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lopez, E., Thauvin-Robinet, C., Reversade, B., Khartoufi, N. E., Devisme, L., Holder, M., Ansart-Franquet, H., Avila, M., Lacombe, D., Kleinfinger, P., Kaori, I., Takanashi, J.-I., and 20 others.
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<strong>C5orf42 is the major gene responsible for OFD syndrome type VI.</strong>
|
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Hum. Genet. 133: 367-377, 2014.
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[PubMed: 24178751]
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[Full Text: https://doi.org/10.1007/s00439-013-1385-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Srour, M., Schwartzentruber, J., Hamdan, F. F., Ospina, L. H., Patry, L., Labuda, D., Massicotte, C., Dobrzeniecka, S., Cap-Chichi, J.-M., Papillon-Cavanagh, S., Samuels, M. E., Boycott, K. M., Shevell, M. I., Laframboise, R., Desilets, V., FORGE Canada Consortium, Maranda, B., Rouleau, G. A., Majewski, J., Michaud, J. L.
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<strong>Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.</strong>
|
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Am. J. Hum. Genet. 90: 693-700, 2012.
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[PubMed: 22425360]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.02.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Toriyama, M., Lee, C., Taylor, S. P., Duran, I., Cohn, D. H., Bruel, A.-L., Tabler, J. M., Drew, K., Kelly, M. R., Kim, S., Park, T. J., Braun, D. A., and 21 others.
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<strong>The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.</strong>
|
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Nature Genet. 48: 648-656, 2016. Note: Erratum: Nature Genet. 48: 970 only, 2016.
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[PubMed: 27158779]
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[Full Text: https://doi.org/10.1038/ng.3558]
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</p>
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</li>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/06/2019<br>Marla J. F. O'Neill - updated : 03/30/2018<br>Patricia A. Hartz - updated : 11/08/2017<br>Cassandra L. Kniffin - updated : 10/30/2014<br>Cassandra L. Kniffin - updated : 5/1/2012
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/16/2012
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/24/2023<br>alopez : 09/24/2020<br>mgross : 08/06/2019<br>alopez : 08/31/2018<br>carol : 04/19/2018<br>carol : 04/02/2018<br>carol : 03/30/2018<br>carol : 01/08/2018<br>carol : 01/04/2018<br>alopez : 11/08/2017<br>carol : 11/05/2014<br>mcolton : 11/4/2014<br>ckniffin : 10/30/2014<br>carol : 9/11/2013<br>carol : 6/5/2012<br>ckniffin : 5/24/2012<br>carol : 5/3/2012<br>terry : 5/3/2012<br>ckniffin : 5/1/2012<br>ckniffin : 5/1/2012<br>mgross : 4/16/2012
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</span>
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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