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- *610523 - CENTROSOMAL PROTEIN, 41-KD; CEP41
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- OMIM
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<p>
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<span class="h4">*610523</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<a href="/allelicVariants/610523">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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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=ENSG00000106477;t=ENST00000223208" 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=95681" 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=610523" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000106477;t=ENST00000223208" 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_001257158,NM_001257159,NM_001257160,NM_018718,NR_046443,XM_011516709,XM_024447004,XM_047421053,XM_047421054,XM_047421055" 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_018718" 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=610523" 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 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="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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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=15574&isoform_id=15574_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CEP41" 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/8655693,10438839,13235092,16306479,21218151,21218153,28200373,33525199,51094842,56748870,119604170,189054457,194391358,380692319,380692321,380692323,767949099,1370511287,2217369107,2217369110,2217369113,2462616880,2462616882,2462616884,2462616886,2462616888" 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/Q9BYV8" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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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=95681" 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=ENSG00000106477;t=ENST00000223208" 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=CEP41" 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=CEP41" 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+95681" 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/CEP41" 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:95681" 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/95681" 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=chr7&hgg_gene=ENST00000223208.10&hgg_start=130393771&hgg_end=130441741&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610523[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 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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</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=610523[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000106477" 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=CEP41" 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=CEP41" 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=CEP41" 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=CEP41&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/PA37039" 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:12370" 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:1891414" 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/CEP41#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:1891414" 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/95681/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=95681" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00249817;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040704-35" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CEP41&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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610523
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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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CENTROSOMAL PROTEIN, 41-KD; CEP41
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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TESTIS-SPECIFIC PROTEIN A14 TESTIS-SPECIFIC PROTEIN 14, FORMERLY; TSGA14, FORMERLY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEP41" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP41</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/680?start=-3&limit=10&highlight=680">7q32.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:130393771-130441741&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'})">7:130,393,771-130,441,741</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/7/680?start=-3&limit=10&highlight=680">
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7q32.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 15
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614464"> 614464 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/610523" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610523" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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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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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Using genomic sequence analysis of a PAC/BAC contig containing the imprinted MEST (<a href="/entry/601029">601029</a>) gene, followed by EST database searching, <a href="#2" class="mim-tip-reference" title="Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T. <strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong> Gene 288: 57-63, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00428-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034494">Yamada et al. (2002)</a> identified cDNAs corresponding to 2 splice variants of TSGA14 encoding deduced proteins of 373 and 54 amino acids. Northern blot analysis detected transcripts of the longer isoform in adult testis (1.4 and 3.7 kb) and in fetal brain, lung, liver, and kidney (3.7 and 2.9 kb). A 1.1-kb transcript of the shorter isoform was weakly expressed in adult testis and fetal tissues. Using methylation analysis of a CpG island in TSGA14 intron 1 and analysis of biallelic expression of an exon 1 SNP in fetal tissues and blood lymphocytes, <a href="#2" class="mim-tip-reference" title="Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T. <strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong> Gene 288: 57-63, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00428-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034494">Yamada et al. (2002)</a> showed that TSGA14 escapes genomic imprinting. <a href="#2" class="mim-tip-reference" title="Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T. <strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong> Gene 288: 57-63, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00428-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034494">Yamada et al. (2002)</a> suggested that the 7q32 imprinted region may be small compared to other imprinted domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In zebrafish, <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> found Cep41 expression in various ciliary organs, including Kupffer vesicle, ear, heart, brain, and kidney. Cep41 was also found in the centrioles and cilia of several ciliated cell lines, including mouse inner medullary collecting duct cells and human retinal pigment epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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="#2" class="mim-tip-reference" title="Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T. <strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong> Gene 288: 57-63, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00428-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034494">Yamada et al. (2002)</a> determined that the TSGA14 gene contains 11 exons and spans approximately 50 kb. The short variant is encoded by 3 exons, the first 2 exons in common with the long variant and a third exon located in intron 2 of the long variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T. <strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong> Gene 288: 57-63, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00428-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034494">Yamada et al. (2002)</a> mapped the TGSA14 gene to chromosome 7q32 at a position 50 kb proximal to the MEST gene in a head to head orientation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034494" 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 affected members of 3 consanguineous families with Joubert syndrome-15 (JBTS15; <a href="/entry/614464">614464</a>), 2 of Egyptian origin and 1 Portuguese, <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified 3 different homozygous mutations in the CEP41 gene (<a href="#0001">610523.0001</a>-<a href="#0003">610523.0003</a>). The first mutation was found by linkage analysis followed by candidate gene sequencing in 1 of the families. Heterozygous CEP41 mutations (see, e.g., <a href="#0004">610523.0004</a>-<a href="#0007">610523.0007</a>) were found in 5 additional patients with Joubert syndrome, and 3 of them were found to carry heterozygous mutations in other genes associated with ciliopathies (KIF7; <a href="/entry/611254#0007">611254.0007</a> and CC2D2A; <a href="/entry/612013#0007">612013.0007</a> and <a href="/entry/612013#0009">612013.0009</a>). These findings indicated digenic inheritance, and suggested that CEP41 may act as a modifier in the broader class of ciliopathies. Primary cultured fibroblasts from patients showed lack of CEP41 protein. Induction of ciliogenesis in these fibroblast resulted in cilia with a reduction of staining for GT335, which recognizes the glutamylated forms of tubulin. Forced expression of CEP41 increased the percentage of cells with glutamylated cilia. These findings suggested a potential role of CEP41 in regulating the posttranslational modification of tubulin by glutamylation. The cilia of zebrafish deficient in Cep41 showed a defect in tubulin structural defects, as well as defects in motility. Only the axoneme appeared to be affected, with the centriole being properly modified. Further studies in zebrafish and mouse cells indicated that Cep41 functions by mediating transport of TTLL6 (<a href="/entry/610849">610849</a>), an evolutionarily conserved polyglutamylase enzyme, between the basal body and cilium. The findings implicated tubulin posttranslational modification in the pathogenesis of human ciliary dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> demonstrated that morpholino knockout of Cep41 in zebrafish resulted in peripheral heart edema and tail defects, along with ciliopathy-related phenotypes, including hydrocephalus, abnormal ear otolith formation, and small eyes. Transfection of human CEP41 resulted in partial rescue of the phenotype. Specific knockout of Cep41 in zebrafish myocardium resulted in inversion defects or failure to develop asymmetry of the ventricle and atrium, suggesting a role in heart laterality. Homozygous Cep41 mouse mutants showed a wide range of phenotypes, including malformed hindbrain, exencephaly, brain hemorrhage, dilated pericardial sac, and lethality. However, some homozygous mutants showed normal development, suggesting the presence of extragenic phenotypic modifiers. The cilia of zebrafish deficient in Cep41 showed a defect in tubulin glutamylation, and electron microscopy showed structural defects in zebrafish renal cilia, with the A-tubules of the outer doublet microtubules of the axoneme being collapsed and/or duplicated. The cilia of the Kupffer vesicle and kidney showed disabled motility. The data suggested that Cep41 is involved in ciliary structural formation and motility by having an essential role in tubulin glutamylation at the cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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 5 affected members of a consanguineous Egyptian family with Joubert syndrome-15 (JBTS15; <a href="/entry/614464">614464</a>), <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a homozygous T-to-G transversion in intron 1 of the CEP41 gene (33+2T-G). Studies of patient cells showed absence of mature CEP41 mRNA, probably a result of nonsense-mediated mRNA decay. The mutation was found by linkage analysis followed by candidate gene sequencing. The patients had hypotonia, ataxia, psychomotor delay with borderline or mild mental retardation, and the molar tooth sign on brain imaging. One of the patients had a more severe phenotype, with unilateral retinopathy, coloboma, nephronophthisis, mild liver abnormalities, postaxial polydactyly, and ambiguous genitalia, and died at age 7 days. The other 4 patients did not have liver or renal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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">rs2117674119 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2117674119;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=rs2117674119" 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=rs2117674119" 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=RCV000023824" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023824" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023824</a>
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<p>In 2 sisters, born of consanguineous Egyptian parents, with Joubert syndrome (JBTS15; <a href="/entry/614464">614464</a>), <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a homozygous 3-bp deletion (97+3_5delGAG) predicted to abolish the donor splice site from exon 2. The mutation was demonstrated to cause skipping of exon 2 and premature termination in exon 3. The girls had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing abnormalities, and molar tooth sign on brain imaging, but no renal or liver involvement. One had unilateral postaxial polydactyly. A third sib, a boy, who did not have the molar tooth sign, was found to be heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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 15</strong>
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CEP41, IVS6AS, A-C, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs781815473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs781815473;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/rs781815473?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=rs781815473" 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=rs781815473" 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=RCV000023825" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023825" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023825</a>
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<p>In a patient, born of consanguineous Portuguese parents, with Joubert syndrome (JBTS15; <a href="/entry/614464">614464</a>), <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a homozygous A-to-C transversion (423-2A-C), predicted to abolish the splice acceptor site from exon 7. The patient had hypotonia, ataxia, mental retardation, retinopathy, polydactyly, and the molar tooth sign on brain imaging. He did not have renal or hepatic involvement. He was also found to carry a heterozygous mutation in the CEP290 gene (<a href="/entry/610142">610142</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 JOUBERT SYNDROME 12/15, DIGENIC</strong>
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CEP41, ARG179HIS
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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> rs140259402 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs140259402;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/rs140259402?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=rs140259402" 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=rs140259402" 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=RCV000023826 OR RCV001362438" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023826, RCV001362438" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023826...</a>
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<p>In a German patient with digenic inheritance of Joubert syndrome, <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 536A-G transition in exon 7 of the CEP41 gene, resulting in an arg179-to-his (R179H) substitution in a highly conserved residue consistent with JBTS15 (<a href="/entry/614464">614464</a>), and a heterozygous truncating mutation in the KIF7 gene (811delG; <a href="/entry/611254#0007">611254.0007</a>), consistent with JBTS12 (see <a href="/entry/200990">200990</a>). He had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing abnormalities, and the molar tooth sign on brain imaging, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 JOUBERT SYNDROME 9/15, DIGENIC</strong>
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CEP41, MET36THR
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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> rs368178632 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368178632;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/rs368178632?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=rs368178632" 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=rs368178632" 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=RCV000023827 OR RCV000268974 OR RCV001261715 OR RCV001544767" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023827, RCV000268974, RCV001261715, RCV001544767" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023827...</a>
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<p>In a Spanish patient with digenic inheritance of Joubert syndrome, <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 107T-C transition in exon 3 of the CEP41 gene, resulting in a met36-to-thr (M36T) substitution in a highly conserved residue consistent with JBTS15 (<a href="/entry/614464">614464</a>), and a heterozygous mutation in the CC2D2A gene (R1049X; <a href="/entry/612013#0007">612013.0007</a>), consistent with JBTS9 (<a href="/entry/612285">612285</a>). She had hypotonia, ataxia, mental retardation, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 JOUBERT SYNDROME 9/15, DIGENIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs371812716 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs371812716;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/rs371812716?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=rs371812716" 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=rs371812716" 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=RCV000023828 OR RCV001295978" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023828, RCV001295978" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023828...</a>
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<p>In a Swiss patient with digenic inheritance of Joubert syndrome, <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 1078C-T transition in exon 11 of the CEP41 gene resulting in an arg360-to-cys (R360C) substitution in a conserved residue consistent with JBTS15 (<a href="/entry/614464">614464</a>), and a heterozygous mutation in the CC2D2A gene (E1447A; <a href="/entry/612013#0009">612013.0009</a>), predicted to be a potentially deleterious sequence variant and consistent with JBTS9 (<a href="/entry/612285">612285</a>). She had hypotonia, ataxia, mental retardation, oculomotor apraxia, bilateral preaxial polydactyly, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 JOUBERT SYNDROME 15</strong>
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CEP41, SER28TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1584901211 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584901211;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=rs1584901211" 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=rs1584901211" 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=RCV000023829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023829</a>
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<p>In an Italian patient with Joubert syndrome (JBTS15; <a href="/entry/614464">614464</a>), <a href="#1" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 83C-A transversion in exon 2 of the CEP41 gene, resulting in a ser28-to-ter (S28X) substitution. A second pathogenic mutation was not identified. The patient had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing difficulties, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Lee2012" class="mim-anchor"></a>
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Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
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<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
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Nature Genet. 44: 193-199, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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=22246503" 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.1078" target="_blank">Full Text</a>]
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Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T.
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<strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong>
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Gene 288: 57-63, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034494" 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/s0378-1119(02)00428-6" target="_blank">Full Text</a>]
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/1/2012
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Dorothy S. Reilly : 10/26/2006
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carol : 01/04/2018
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<span class="mim-text-font">
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carol : 02/02/2012<br>ckniffin : 2/1/2012<br>mgross : 1/27/2012<br>carol : 10/26/2006<br>carol : 10/26/2006
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<strong>*</strong> 610523
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CENTROSOMAL PROTEIN, 41-KD; CEP41
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TESTIS-SPECIFIC PROTEIN A14 TESTIS-SPECIFIC PROTEIN 14, FORMERLY; TSGA14, FORMERLY
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<strong><em>HGNC Approved Gene Symbol: CEP41</em></strong>
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Cytogenetic location: 7q32.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:130,393,771-130,441,741 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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7q32.2
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Joubert syndrome 15
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<span class="mim-font">
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614464
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Using genomic sequence analysis of a PAC/BAC contig containing the imprinted MEST (601029) gene, followed by EST database searching, Yamada et al. (2002) identified cDNAs corresponding to 2 splice variants of TSGA14 encoding deduced proteins of 373 and 54 amino acids. Northern blot analysis detected transcripts of the longer isoform in adult testis (1.4 and 3.7 kb) and in fetal brain, lung, liver, and kidney (3.7 and 2.9 kb). A 1.1-kb transcript of the shorter isoform was weakly expressed in adult testis and fetal tissues. Using methylation analysis of a CpG island in TSGA14 intron 1 and analysis of biallelic expression of an exon 1 SNP in fetal tissues and blood lymphocytes, Yamada et al. (2002) showed that TSGA14 escapes genomic imprinting. Yamada et al. (2002) suggested that the 7q32 imprinted region may be small compared to other imprinted domains. </p><p>In zebrafish, Lee et al. (2012) found Cep41 expression in various ciliary organs, including Kupffer vesicle, ear, heart, brain, and kidney. Cep41 was also found in the centrioles and cilia of several ciliated cell lines, including mouse inner medullary collecting duct cells and human retinal pigment epithelial cells. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Yamada et al. (2002) determined that the TSGA14 gene contains 11 exons and spans approximately 50 kb. The short variant is encoded by 3 exons, the first 2 exons in common with the long variant and a third exon located in intron 2 of the long variant. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Yamada et al. (2002) mapped the TGSA14 gene to chromosome 7q32 at a position 50 kb proximal to the MEST gene in a head to head orientation. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In affected members of 3 consanguineous families with Joubert syndrome-15 (JBTS15; 614464), 2 of Egyptian origin and 1 Portuguese, Lee et al. (2012) identified 3 different homozygous mutations in the CEP41 gene (610523.0001-610523.0003). The first mutation was found by linkage analysis followed by candidate gene sequencing in 1 of the families. Heterozygous CEP41 mutations (see, e.g., 610523.0004-610523.0007) were found in 5 additional patients with Joubert syndrome, and 3 of them were found to carry heterozygous mutations in other genes associated with ciliopathies (KIF7; 611254.0007 and CC2D2A; 612013.0007 and 612013.0009). These findings indicated digenic inheritance, and suggested that CEP41 may act as a modifier in the broader class of ciliopathies. Primary cultured fibroblasts from patients showed lack of CEP41 protein. Induction of ciliogenesis in these fibroblast resulted in cilia with a reduction of staining for GT335, which recognizes the glutamylated forms of tubulin. Forced expression of CEP41 increased the percentage of cells with glutamylated cilia. These findings suggested a potential role of CEP41 in regulating the posttranslational modification of tubulin by glutamylation. The cilia of zebrafish deficient in Cep41 showed a defect in tubulin structural defects, as well as defects in motility. Only the axoneme appeared to be affected, with the centriole being properly modified. Further studies in zebrafish and mouse cells indicated that Cep41 functions by mediating transport of TTLL6 (610849), an evolutionarily conserved polyglutamylase enzyme, between the basal body and cilium. The findings implicated tubulin posttranslational modification in the pathogenesis of human ciliary dysfunction. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Lee et al. (2012) demonstrated that morpholino knockout of Cep41 in zebrafish resulted in peripheral heart edema and tail defects, along with ciliopathy-related phenotypes, including hydrocephalus, abnormal ear otolith formation, and small eyes. Transfection of human CEP41 resulted in partial rescue of the phenotype. Specific knockout of Cep41 in zebrafish myocardium resulted in inversion defects or failure to develop asymmetry of the ventricle and atrium, suggesting a role in heart laterality. Homozygous Cep41 mouse mutants showed a wide range of phenotypes, including malformed hindbrain, exencephaly, brain hemorrhage, dilated pericardial sac, and lethality. However, some homozygous mutants showed normal development, suggesting the presence of extragenic phenotypic modifiers. The cilia of zebrafish deficient in Cep41 showed a defect in tubulin glutamylation, and electron microscopy showed structural defects in zebrafish renal cilia, with the A-tubules of the outer doublet microtubules of the axoneme being collapsed and/or duplicated. The cilia of the Kupffer vesicle and kidney showed disabled motility. The data suggested that Cep41 is involved in ciliary structural formation and motility by having an essential role in tubulin glutamylation at the cilium. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 JOUBERT SYNDROME 15</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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CEP41, IVS1DS, T-G, +2
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<br />
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SNP: rs1584916464,
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ClinVar: RCV000023823
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<p>In 5 affected members of a consanguineous Egyptian family with Joubert syndrome-15 (JBTS15; 614464), Lee et al. (2012) identified a homozygous T-to-G transversion in intron 1 of the CEP41 gene (33+2T-G). Studies of patient cells showed absence of mature CEP41 mRNA, probably a result of nonsense-mediated mRNA decay. The mutation was found by linkage analysis followed by candidate gene sequencing. The patients had hypotonia, ataxia, psychomotor delay with borderline or mild mental retardation, and the molar tooth sign on brain imaging. One of the patients had a more severe phenotype, with unilateral retinopathy, coloboma, nephronophthisis, mild liver abnormalities, postaxial polydactyly, and ambiguous genitalia, and died at age 7 days. The other 4 patients did not have liver or renal involvement. </p>
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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>.0002 JOUBERT SYNDROME 15</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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CEP41, 3-BP DEL, IVS1DS, 97GAG
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<br />
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SNP: rs2117674119,
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ClinVar: RCV000023824
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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 sisters, born of consanguineous Egyptian parents, with Joubert syndrome (JBTS15; 614464), Lee et al. (2012) identified a homozygous 3-bp deletion (97+3_5delGAG) predicted to abolish the donor splice site from exon 2. The mutation was demonstrated to cause skipping of exon 2 and premature termination in exon 3. The girls had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing abnormalities, and molar tooth sign on brain imaging, but no renal or liver involvement. One had unilateral postaxial polydactyly. A third sib, a boy, who did not have the molar tooth sign, was found to be heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 JOUBERT SYNDROME 15</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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CEP41, IVS6AS, A-C, -2
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<br />
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SNP: rs781815473,
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gnomAD: rs781815473,
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ClinVar: RCV000023825
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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 patient, born of consanguineous Portuguese parents, with Joubert syndrome (JBTS15; 614464), Lee et al. (2012) identified a homozygous A-to-C transversion (423-2A-C), predicted to abolish the splice acceptor site from exon 7. The patient had hypotonia, ataxia, mental retardation, retinopathy, polydactyly, and the molar tooth sign on brain imaging. He did not have renal or hepatic involvement. He was also found to carry a heterozygous mutation in the CEP290 gene (610142). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 12/15, DIGENIC</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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CEP41, ARG179HIS
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<br />
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SNP: rs140259402,
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gnomAD: rs140259402,
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ClinVar: RCV000023826, RCV001362438
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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 German patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous 536A-G transition in exon 7 of the CEP41 gene, resulting in an arg179-to-his (R179H) substitution in a highly conserved residue consistent with JBTS15 (614464), and a heterozygous truncating mutation in the KIF7 gene (811delG; 611254.0007), consistent with JBTS12 (see 200990). He had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing abnormalities, and the molar tooth sign on brain imaging, but no liver, renal, or retinal involvement. </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>.0005 JOUBERT SYNDROME 9/15, DIGENIC</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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CEP41, MET36THR
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<br />
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SNP: rs368178632,
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gnomAD: rs368178632,
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ClinVar: RCV000023827, RCV000268974, RCV001261715, RCV001544767
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Spanish patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous 107T-C transition in exon 3 of the CEP41 gene, resulting in a met36-to-thr (M36T) substitution in a highly conserved residue consistent with JBTS15 (614464), and a heterozygous mutation in the CC2D2A gene (R1049X; 612013.0007), consistent with JBTS9 (612285). She had hypotonia, ataxia, mental retardation, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 JOUBERT SYNDROME 9/15, DIGENIC</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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CEP41, ARG360CYS
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<br />
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SNP: rs371812716,
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gnomAD: rs371812716,
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ClinVar: RCV000023828, RCV001295978
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Swiss patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous 1078C-T transition in exon 11 of the CEP41 gene resulting in an arg360-to-cys (R360C) substitution in a conserved residue consistent with JBTS15 (614464), and a heterozygous mutation in the CC2D2A gene (E1447A; 612013.0009), predicted to be a potentially deleterious sequence variant and consistent with JBTS9 (612285). She had hypotonia, ataxia, mental retardation, oculomotor apraxia, bilateral preaxial polydactyly, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. </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>.0007 JOUBERT SYNDROME 15</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP41, SER28TER
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<br />
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SNP: rs1584901211,
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ClinVar: RCV000023829
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an Italian patient with Joubert syndrome (JBTS15; 614464), Lee et al. (2012) identified a heterozygous 83C-A transversion in exon 2 of the CEP41 gene, resulting in a ser28-to-ter (S28X) substitution. A second pathogenic mutation was not identified. The patient had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing difficulties, and the molar tooth sign on brain MRI, but no liver, renal, or retinal involvement. </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>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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Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
|
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<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
|
|
Nature Genet. 44: 193-199, 2012.
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[PubMed: 22246503]
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[Full Text: https://doi.org/10.1038/ng.1078]
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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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Yamada, T., Kayashima, T., Yamasaki, K., Ohta, T., Yoshiura, K., Matsumoto, N., Fujimoto, S., Niikawa, N., Kishino, T.
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<strong>The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.</strong>
|
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Gene 288: 57-63, 2002.
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[PubMed: 12034494]
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[Full Text: https://doi.org/10.1016/s0378-1119(02)00428-6]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div 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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Cassandra L. Kniffin - updated : 2/1/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div 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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Dorothy S. Reilly : 10/26/2006
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</span>
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</div>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/04/2018<br>carol : 02/02/2012<br>ckniffin : 2/1/2012<br>mgross : 1/27/2012<br>carol : 10/26/2006<br>carol : 10/26/2006
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</span>
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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<br />
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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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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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