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Entry
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- *610937 - RPGRIP1-LIKE; RPGRIP1L
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- OMIM
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<p>
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<span class="h4">*610937</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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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610937">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000103494;t=ENST00000647211" 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=23322" 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=610937" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<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=ENSG00000103494;t=ENST00000647211" 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_001127897,NM_001308334,NM_001328422,NM_001328423,NM_001330538,NM_015272,XM_005255868,XM_011522970,XM_011522971,XM_011522973,XM_017023095,XM_017023097,XM_017023098,XM_017023099,XM_017023100,XM_047433869,XM_047433870,XM_047433871,XM_047433872,XM_047433873,XM_047433874,XM_047433875,XM_047433876,XM_047433877,XM_047433878,XM_047433879,XM_047433880,XM_047433881,XR_007064860,XR_007064861,XR_007064862,XR_933260" 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_015272" 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=610937" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=17204&isoform_id=17204_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/RPGRIP1L" 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/4589654,51476986,118142825,118442834,119603216,189217904,194388312,219517741,296434514,530423734,767989659,767989661,767989665,816197642,1034594131,1034594138,1034594140,1034594142,1034594144,1036292262,1036292265,1059842879,2217305312,2217305314,2217305316,2217305320,2217305326,2217305329,2217305332,2217305335,2217305337,2217305339,2217305341,2217305343,2217305345,2462548243,2462548245,2462548247,2462548249,2462548251,2462548253,2462548259,2462548261,2462548263,2462548265,2462548267,2462548269,2462548271,2462548273,2462548275,2462548277,2462548279,2462548281,2462548283,2462548285,2462548287,2462548289" 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/Q68CZ1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23322" 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=ENSG00000103494;t=ENST00000647211" 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=RPGRIP1L" 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=RPGRIP1L" 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+23322" 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/RPGRIP1L" 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:23322" 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/23322" 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=chr16&hgg_gene=ENST00000647211.2&hgg_start=53598153&hgg_end=53703859&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29168" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610937[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610937[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RPGRIP1L/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000103494" 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=RPGRIP1L" 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=RPGRIP1L" 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=RPGRIP1L" 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=RPGRIP1L&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/PA162401983" 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:29168" 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:1920563" 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/RPGRIP1L#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:1920563" 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/23322/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=23322" 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=WBGene00007490;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-081104-81" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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=RPGRIP1L&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>
|
|
<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
610937
|
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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>
|
|
<span class="mim-font">
|
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RPGRIP1-LIKE; RPGRIP1L
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NEPHROCYSTIN 8; NPHP8<br />
|
|
KIAA1005
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RPGRIP1L" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPGRIP1L</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/16/436?start=-3&limit=10&highlight=436">16q12.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:53598153-53703859&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'})">16:53,598,153-53,703,859</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619113,611560,611561" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/436?start=-3&limit=10&highlight=436">
|
|
16q12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?COACH syndrome 3
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619113"> 619113 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 7
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/611560"> 611560 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meckel syndrome 5
|
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 63-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>] [<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231032">Nagase et al. (1999)</a> cloned RPGRIP1L, which they called KIAA1005. The deduced protein contains 1,055 amino acids. RT-PCR ELISA detected moderate expression in adult brain, weak expression in kidney, ovary, and spinal cord, and no expression in any other adult or fetal tissue examined. Within specific brain regions, moderate expression was detected in caudate nucleus and amygdala, and weak expression was detected in corpus callosum, subthalamic nucleus, and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> determined that the RPGRIP1L protein comprises 1,315 residues and shares 31% identity with RPGRIP1 (<a href="/entry/605446">605446</a>), a protein present at the photoreceptor connecting cilium and mutated in Leber congenital amaurosis type VI (see LCA6; <a href="/entry/605446">605446</a>). RPGRIP1L contains an N-terminal region with 5 coiled-coil domains, a C-terminal region homologous to the RPGR-interacting domain of RPGRIP1, and a central region with 2 protein kinase C conserved region 2 (C2) motifs. By RT-PCR and in situ hybridization analysis, <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> found ubiquitous RPGRIP1L expression in human embryonic and fetal tissues, including brain, forelimbs, and kidney, confirming its importance in early development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR analysis, <a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> detected strong expression of RPGRIP1L in adult human testis and kidney and fetal eye, brain, and kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> determined that the RPGRIP1L gene contains 27 exons and spans about 103.2 kb. Exon 27 is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 63-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>] [<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231032">Nagase et al. (1999)</a> mapped the KIAA1005 gene to chromosome 16. By positional cloning, <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> mapped the RPGRIP1L gene to chromosome 16q12.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10231032+17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> demonstrated that RPGRIP1L localized to primary cilia and centrosomes in ciliated Madin-Darby canine kidney (MDCK) II cells. RPGRIP1L colocalized at the basal body-centrosome complex with nephrocystin-4 (NPHP4; <a href="/entry/607215">607215</a>), nephrocystin-6 (NPHP6; <a href="/entry/610142">610142</a>), and the centrosome marker gamma-tubulin (TUBG1; <a href="/entry/191135">191135</a>). Some cells showed punctate RPGRIP1L localization along the ciliary axoneme or in the cytoplasm during cell division. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> found that the C2 domain of RPGRIP1L interacts with NPHP4 by GST pull-down and coimmunoprecipitation. Cellular immunohistochemical studies of different animal tissues, including retina, brain, and kidney, showed that RPGRIP1L localized to basal bodies and ciliary axonemes at the base of primary cilia, where it interacted with NPHP4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R. <strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong> J. Cell. Biol. 192: 1023-1041, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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/10.1083/jcb.201012116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21422230">Williams et al. (2011)</a> showed that the conserved proteins Mks1 (<a href="/entry/609883">609883</a>), Mksr1 (B9D1), Mksr2 (B9D2; <a href="/entry/611951">611951</a>), Tmem67 (<a href="/entry/609884">609884</a>), Rpgrip1l, Cc2d2a (<a href="/entry/612013">612013</a>), Nphp1 (<a href="/entry/607100">607100</a>), and Nphp4 functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21422230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Joubert Syndrome 7</em></strong></p><p>
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In patients with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified homozygous or compound heterozygous mutations in the RPGRIP1L gene (<a href="#0001">610937.0001</a>-<a href="#0004">610937.0004</a>). All patients had renal disease in addition to the classic neurologic abnormalities of Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" 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 patients with JBTS7, <a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> identified homozygous or compound heterozygous mutations in the RPGRIP1L gene (see, e.g., <a href="#0008">610937.0008</a>-<a href="#0009">610937.0009</a>). The phenotype was variable with respect to renal disease. None of the patients had retinal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wolf, M. T. F., Saunier, S., O'Toole, J. F., Wanner, N., Groshong, T., Attanasio, M., Salomon, R., Stallmach, T., Sayer, J. A., Waldherr, R., Griebel, M., Oh, J., Neuhaus, T. J., Josefiak, U., Antignac, C., Otto, E. A., Hildebrandt, F. <strong>Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.</strong> Kidney Int. 72: 1520-1526, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17960139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17960139</a>] [<a href="https://doi.org/10.1038/sj.ki.5002630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17960139">Wolf et al. (2007)</a> identified 4 different RPGRIP1L mutations in 5 of 56 families with Joubert syndrome who were negative for mutations in other Joubert-related genes. Two families had the same mutation (T615P; <a href="#0002">610937.0002</a>). All patients with RPGRIP1L mutations had nephronophthisis (NPHP) with impaired renal function and mental retardation. Additional variable features included oculomotor apraxia, liver fibrosis, cerebellar vermis hypoplasia, impaired vision, and ocular coloboma. Only 1 patient had retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17960139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Meckel Syndrome 5</em></strong></p><p>
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In 3 patients with Meckel syndrome type 5 (MKS5; <a href="/entry/611561">611561</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (<a href="#0005">610937.0005</a>-<a href="#0007">610937.0007</a>). The results indicated that complete loss of RPGRIP1L results in the more severe phenotype of Meckel syndrome, whereas partial loss results in the less severe Joubert syndrome. However, the authors noted that both phenotypes result from the same underlying defect and thus represent a phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>COACH Syndrome 3</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[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/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene (<a href="#0011">610937.0011</a> and <a href="#0012">610937.0012</a>) in a patient with a diagnosis of COACH syndrome (COACH3; <a href="/entry/619113">619113</a>), defined as Joubert syndrome with congenital hepatic fibrosis. Other features in this patient included mental retardation, the molar tooth sign on brain MRI, and nephronophthisis. The findings indicated that COACH syndrome can be considered a subtype of Joubert syndrome with liver involvement. The proposed ciliary function for RPGRIP1L supported a unifying underlying pathophysiology for liver disease in these disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa in Ciliopathies, Modifier of</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others. <strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong> Nature Genet. 41: 739-745, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19430481">Khanna et al. (2009)</a> presented evidence that a common allele in the RPGRIP1L gene (A229T; <a href="#0013">610937.0013</a>) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19430481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> found that Rpgrip1l-null mouse fetuses had head abnormalities ranging from pronounced rounded shape of the skull to exencephaly. The eyes were either not detectable or small and deep-set. Cleft upper lips and hypoplastic lower jaws were frequent. There were multiple brain anomalies, including dilated ventricles, cerebellar hypoplasia, and absence of the corpus callosum. Some of the fetuses at later gestation showed microcystic dilatations of proximal kidney tubules and bile duct proliferation in the liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Laclef, C., Anselme, I., Besse, L., Catala, M., Palmyre, A., Baas, D., Paschaki, M., Pedraza, M., Metin, C., Durand, B., Schneider-Maunoury, S. <strong>The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.</strong> Hum. Molec. Genet. 24: 4997-5014, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26071364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26071364</a>] [<a href="https://doi.org/10.1093/hmg/ddv221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26071364">Laclef et al. (2015)</a> had previously found that forebrain neuroepithelial cells of Rpgrip1l -/- mouse embryos had abnormal cilia devoid of axoneme. Rpgrip1l -/- telencephalon also showed severe ventrilization, which led to agenesis of olfactory bulbs and formation of ectopic olfactory bulb-like structures. <a href="#6" class="mim-tip-reference" title="Laclef, C., Anselme, I., Besse, L., Catala, M., Palmyre, A., Baas, D., Paschaki, M., Pedraza, M., Metin, C., Durand, B., Schneider-Maunoury, S. <strong>The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.</strong> Hum. Molec. Genet. 24: 4997-5014, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26071364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26071364</a>] [<a href="https://doi.org/10.1093/hmg/ddv221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26071364">Laclef et al. (2015)</a> found that Rpgrip1l -/- guidepost and progenitor cells, which are involved in corpus callosum formation, also failed to form proper cilia. The coirticoseptal boundary in medial telencephalon of embryonic day-15.5 (E15.5) Rpgrip1l -/- embryos was severely perturbed, with cells of ventral identity present in the dorsal compartment and vice versa. Rpgrip1l -/- mutants also showed misexpression of several guidance molecules, including netrin-1 (NTN1; <a href="/entry/601614">601614</a>) and Slit2 (<a href="/entry/603746">603746</a>). Patterning of commissural plate was already affected in E12.5 mutants. Reintroduction of the short repressor isoform of Gli3 (<a href="/entry/165240">165240</a>), Gli3r, restored normal telencephalic midline patterning and corpus collosum formation in the absence of primary cilia in Rpgrip1l -/- embryos. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26071364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a French patient with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 697A-T transversion in exon 6 resulting in a lys233-to-ter (K233X) substitution, and a T615P (<a href="#0002">610937.0002</a>) mutation. The child had mental retardation, cerebellar ataxia, nephronophthisis, oculomotor apraxia, ptosis, and genu valgum. End-stage renal disease occurred at age 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918198 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918198;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/rs121918198?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=rs121918198" 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=rs121918198" 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=RCV000001124 OR RCV000393725 OR RCV000689745 OR RCV001271279 OR RCV002482812 OR RCV003155007 OR RCV004528062" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001124, RCV000393725, RCV000689745, RCV001271279, RCV002482812, RCV003155007, RCV004528062" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001124...</a>
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<p>In a French patient with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 1843A-C transversion in exon 15 of the RPGRIP1L gene resulting in a thr615-to-pro (T615P) substitution and a K233X (<a href="#0001">610937.0001</a>) mutation. A second unrelated French patient with a similar phenotype was compound heterozygous for T615P and Q253X (<a href="#0003">610937.0003</a>). <a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> found the T615P mutation in compound heterozygosity with a nonsense mutation (Q684X; <a href="#0009">610937.0009</a>) in a patient with Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17558409+17558407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., the International JSRD Study Group, Dallapiccola, B., Gleeson, J. G., Valente, E. M. <strong>RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.</strong> Clin. Genet. 74: 164-170, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565097</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18565097">Brancati et al. (2008)</a> reported a brother and sister with Joubert syndrome who were homozygous for the T615P mutation. Both presented with developmental delay, growth and mental retardation, nephronophthisis, and severe scoliosis. Visual acuity, fundus examination, and liver function were normal. There was clinical variability between the 2 sibs regarding some features, with the sister being more severely affected. She died at age 17.5 years from renal failure, while he was still alive at age 22 years after kidney transplant. Both had the molar tooth sign on MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18565097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918199 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918199;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/rs121918199?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=rs121918199" 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=rs121918199" 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=RCV000001125 OR RCV001067857 OR RCV001831500 OR RCV003398409 OR RCV005016221" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001125, RCV001067857, RCV001831500, RCV003398409, RCV005016221" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001125...</a>
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<p>In a French patient with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 757C-T transition in exon 6 resulting in a gln253-to-ter (Q253X) substitution and a T615P (<a href="#0002">610937.0002</a>) mutation. The patient had mental retardation, cerebellar ataxia, nephronophthisis, oculomotor apraxia, the molar tooth sign, ptosis, and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918200 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918200;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/rs121918200?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=rs121918200" 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=rs121918200" 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=RCV000001126" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001126" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001126</a>
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<p>In 2 French sibs with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified a homozygous 2083G-C transversion in exon 15 of the RPGRIP1L gene, resulting in an ala695-to-pro (A695P) substitution. Both sibs had scoliosis, oculomotor apraxia, nystagmus, the molar tooth sign, and nephronophthisis with end-stage renal disease by age 9 years. Only 1 had mild mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" 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">rs121918201 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918201;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=rs121918201" 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=rs121918201" 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=RCV000001127 OR RCV001042174" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001127, RCV001042174" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001127...</a>
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<p>In 2 presumably related Moroccan fetuses diagnosed with Meckel syndrome (MKS5; <a href="/entry/611561">611561</a>) at 15 to 16 weeks' gestation by ultrasound, <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified a homozygous 394A-T transversion in exon 4 of the RPGRIP1L gene, resulting in an arg132-to-ter (R132X) substitution. Post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, cystic kidney disease, and hepatic bile duct proliferation. One fetus showed bowing of the long bones. The severe phenotype corresponded to the complete loss of RPGRIP1L function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" 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">rs121918202 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918202;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=rs121918202" 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=rs121918202" 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=RCV000001128 OR RCV003764506" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001128, RCV003764506" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001128...</a>
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<p>In a French fetus diagnosed with Meckel syndrome (MKS5; <a href="/entry/611561">611561</a>) at 16 weeks' gestation by ultrasound, <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a> identified compound heterozygosity for 2 truncation mutations in the RPGRIP1L gene: a 1033C-T transition in exon 9 resulting in a gln345-to-ter (Q345X) substitution, and a 2614C-T transition in exon 17 resulting in a gln872-to-ter (Q872X; <a href="#0007">610937.0007</a>) substitution. Post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, cystic kidney disease, hepatic bile duct proliferation, and bowing of the long bones. The severe phenotype corresponded to the complete loss of RPGRIP1L function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918203 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918203;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/rs121918203?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=rs121918203" 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=rs121918203" 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=RCV000033207 OR RCV000762961 OR RCV000779628 OR RCV000790748 OR RCV001059320 OR RCV001831501 OR RCV004017218 OR RCV005007803" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033207, RCV000762961, RCV000779628, RCV000790748, RCV001059320, RCV001831501, RCV004017218, RCV005007803" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033207...</a>
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<p>For discussion of the gln872-to-ter (Q872X) mutation in the RPGRIP1L gene that was found in compound heterozygous state in a fetus diagnosed with Meckel syndrome (MKS5; <a href="/entry/611561">611561</a>) by <a href="#3" class="mim-tip-reference" title="Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. <strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong> Nature Genet. 39: 875-881, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>] [<a href="https://doi.org/10.1038/ng2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558409">Delous et al. (2007)</a>, see <a href="#0006">610937.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" 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">rs863225216 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225216;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=rs863225216" 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=rs863225216" 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=RCV000201652" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201652" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201652</a>
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<p>In a Turkish girl with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), born of consanguineous parents, <a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> identified a homozygous 1-bp deletion (1721delA) in the RPGRIP1L gene, resulting in a frameshift and premature protein truncation before the C2 domain. The 10-year-old girl had molar tooth sign, hypotonia, ataxia, mental retardation, abnormal eye movements, and renal disease. Retinal disease was not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918204;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/rs121918204?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=rs121918204" 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=rs121918204" 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=RCV000001131 OR RCV000762962 OR RCV000824619 OR RCV001271277 OR RCV001781157 OR RCV001813927 OR RCV005007804" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001131, RCV000762962, RCV000824619, RCV001271277, RCV001781157, RCV001813927, RCV005007804" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001131...</a>
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<p>In a patient with Joubert syndrome (JBTS7; <a href="/entry/611560">611560</a>), <a href="#1" class="mim-tip-reference" title="Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. <strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong> Nature Genet. 39: 882-888, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>] [<a href="https://doi.org/10.1038/ng2069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558407">Arts et al. (2007)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 2050C-T transition, resulting in a gln684-to-ter (Q684X) substitution, and a T615P (<a href="#0002">610937.0002</a>) mutation. The Q684X mutation was predicted to truncate the protein before the C2 domain. In vitro functional expression studies showed that both mutant proteins disrupted NPHP4 binding. At age 5, the child had the molar tooth sign, hypotonia, ataxia, mental retardation, abnormal eye movements, postaxial polydactyly, and encephalocele. Renal and retinal disease were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" 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">rs387906243 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906243;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=rs387906243" 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=rs387906243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Moroccan girl with Joubert syndrome (JBTS7;<a href="/entry/611560">611560</a>), born of consanguineous parents, <a href="#2" class="mim-tip-reference" title="Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., the International JSRD Study Group, Dallapiccola, B., Gleeson, J. G., Valente, E. M. <strong>RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.</strong> Clin. Genet. 74: 164-170, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565097</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18565097">Brancati et al. (2008)</a> identified a homozygous 1-bp deletion (2268delA) in exon 16 of the RPGRIP1L gene, resulting in a frameshift and premature protein truncation. She had episodes of hyperpnea and apnea and delayed milestones. At age 1 year, she developed renal dysfunction associated with small kidneys with increased echogenicity, loss of corticomedullary differentiation, and multiple cysts compatible with nephronophthisis. At age 4 years, she had chronic renal failure, marked growth retardation, and severe psychomotor delay with lack of head control and inability to speak any meaningful words. The molar tooth sign was present on MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18565097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs145665129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145665129;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/rs145665129?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=rs145665129" 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=rs145665129" 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=RCV000001134 OR RCV000201645 OR RCV000733537 OR RCV001382825 OR RCV001831502 OR RCV002490288" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001134, RCV000201645, RCV000733537, RCV001382825, RCV001831502, RCV002490288" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001134...</a>
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<p>In a 17-year-old male with COACH syndrome-3 (COACH3; <a href="/entry/619113">619113</a>), defined as Joubert syndrome with liver disease, <a href="#4" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[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/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a> identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 2413C-T transition, resulting in an arg805-to-ter (R805X) substitution, and a 1975T-C transition, resulting in a ser659-to-pro (S659P; <a href="#0012">610937.0012</a>) substitution. The patient had abnormal breathing pattern, mental retardation, molar tooth sign on brain MRI, congenital hepatic fibrosis with bile duct abnormalities, and nephronophthisis requiring renal transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574260" 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>.0012 COACH SYNDROME 3 (1 patient)</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> rs267607020 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607020;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/rs267607020?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=rs267607020" 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=rs267607020" 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=RCV000001135 OR RCV000201757" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001135, RCV000201757" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001135...</a>
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<p>For discussion of the ser659-to-pro (S659P) mutation in the RPGRIP1L gene that was found in compound heterozygous state in a patient with COACH syndrome-3 (COACH3; <a href="/entry/619113">619113</a>) by <a href="#4" class="mim-tip-reference" title="Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others. <strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong> J. Med. Genet. 47: 8-21, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[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/10.1136/jmg.2009.067249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19574260">Doherty et al. (2010)</a>, see <a href="#0011">610937.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574260" 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>.0013 RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF</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> rs61747071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61747071;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/rs61747071?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=rs61747071" 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=rs61747071" 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=RCV000001133 OR RCV000035002 OR RCV000114223 OR RCV000234815 OR RCV000332989 OR RCV000473873 OR RCV001094311 OR RCV001094370 OR RCV001705578 OR RCV002293972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001133, RCV000035002, RCV000114223, RCV000234815, RCV000332989, RCV000473873, RCV001094311, RCV001094370, RCV001705578, RCV002293972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001133...</a>
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<p><a href="#5" class="mim-tip-reference" title="Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others. <strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong> Nature Genet. 41: 739-745, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19430481">Khanna et al. (2009)</a> presented evidence that a common allele in the RPGRIP1L gene, a 685G-A transition, resulting in an ala229-to-thr (A229T) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61747071;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs61747071</a>), may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations. The 229T allele was significantly enriched among a group of 487 patients with ciliopathy and retinal pigmentosa, including LCA (<a href="/entry/204000">204000</a>), Senior-Loken syndrome (<a href="/entry/266900">266900</a>), Joubert syndrome (<a href="/entry/213300">213300</a>), and BBS (<a href="/entry/209900">209900</a>), compared to 115 patients with ciliopathy without retinal pigmentosa, including NPHP (<a href="/entry/256100">256100</a>) and MKS (<a href="/entry/249000">249000</a>) (p = 1.66 x 10(-5)). In vitro functional expression studies showed that the 229T allele had decreased ability to bind to RPGR compared to the 229A allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19430481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R.
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<strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong>
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Nature Genet. 39: 882-888, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558407" 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/ng2069" target="_blank">Full Text</a>]
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Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., the International JSRD Study Group, Dallapiccola, B., Gleeson, J. G., Valente, E. M.
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<strong>RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.</strong>
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Clin. Genet. 74: 164-170, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18565097" 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/10.1111/j.1399-0004.2008.01047.x" target="_blank">Full Text</a>]
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Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others.
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<strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong>
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Nature Genet. 39: 875-881, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558409" 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/ng2039" target="_blank">Full Text</a>]
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Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others.
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<strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong>
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J. Med. Genet. 47: 8-21, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19574260[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=19574260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
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<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong>
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Nature Genet. 41: 739-745, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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=19430481" 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.366" target="_blank">Full Text</a>]
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Laclef, C., Anselme, I., Besse, L., Catala, M., Palmyre, A., Baas, D., Paschaki, M., Pedraza, M., Metin, C., Durand, B., Schneider-Maunoury, S.
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<strong>The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.</strong>
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Hum. Molec. Genet. 24: 4997-5014, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26071364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26071364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26071364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv221" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nagase1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 63-70, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Williams2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
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<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
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J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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=21422230" 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/10.1083/jcb.201012116" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wolf2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, M. T. F., Saunier, S., O'Toole, J. F., Wanner, N., Groshong, T., Attanasio, M., Salomon, R., Stallmach, T., Sayer, J. A., Waldherr, R., Griebel, M., Oh, J., Neuhaus, T. J., Josefiak, U., Antignac, C., Otto, E. A., Hildebrandt, F.
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<strong>Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.</strong>
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Kidney Int. 72: 1520-1526, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17960139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17960139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17960139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ki.5002630" target="_blank">Full Text</a>]
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 02/26/2016
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 4/29/2011<br>Cassandra L. Kniffin - updated : 6/16/2010<br>Cassandra L. Kniffin - updated : 6/15/2009<br>Cassandra L. Kniffin - updated : 4/21/2009<br>Cassandra L. Kniffin - updated : 8/18/2008<br>Cassandra L. Kniffin - updated : 10/29/2007
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/17/2007
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/01/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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mgross : 02/26/2016<br>alopez : 4/22/2015<br>mcolton : 4/16/2015<br>carol : 1/18/2012<br>carol : 11/22/2011<br>mgross : 5/19/2011<br>mgross : 5/19/2011<br>terry : 4/29/2011<br>mgross : 4/28/2011<br>wwang : 6/24/2010<br>ckniffin : 6/16/2010<br>wwang : 6/18/2009<br>ckniffin : 6/15/2009<br>wwang : 4/30/2009<br>ckniffin : 4/21/2009<br>wwang : 8/25/2008<br>ckniffin : 8/18/2008<br>wwang : 11/16/2007<br>ckniffin : 10/29/2007<br>carol : 7/6/2007<br>mgross : 4/17/2007
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</span>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610937
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RPGRIP1-LIKE; RPGRIP1L
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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NEPHROCYSTIN 8; NPHP8<br />
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KIAA1005
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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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<strong><em>HGNC Approved Gene Symbol: RPGRIP1L</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 16q12.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:53,598,153-53,703,859 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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16q12.2
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</span>
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<td>
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<span class="mim-font">
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?COACH syndrome 3
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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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619113
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Joubert syndrome 7
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</td>
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<td>
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<span class="mim-font">
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611560
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<tr>
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<td>
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<span class="mim-font">
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Meckel syndrome 5
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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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611561
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</tr>
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</tbody>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</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>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1999) cloned RPGRIP1L, which they called KIAA1005. The deduced protein contains 1,055 amino acids. RT-PCR ELISA detected moderate expression in adult brain, weak expression in kidney, ovary, and spinal cord, and no expression in any other adult or fetal tissue examined. Within specific brain regions, moderate expression was detected in caudate nucleus and amygdala, and weak expression was detected in corpus callosum, subthalamic nucleus, and cerebellum. </p><p>Delous et al. (2007) determined that the RPGRIP1L protein comprises 1,315 residues and shares 31% identity with RPGRIP1 (605446), a protein present at the photoreceptor connecting cilium and mutated in Leber congenital amaurosis type VI (see LCA6; 605446). RPGRIP1L contains an N-terminal region with 5 coiled-coil domains, a C-terminal region homologous to the RPGR-interacting domain of RPGRIP1, and a central region with 2 protein kinase C conserved region 2 (C2) motifs. By RT-PCR and in situ hybridization analysis, Delous et al. (2007) found ubiquitous RPGRIP1L expression in human embryonic and fetal tissues, including brain, forelimbs, and kidney, confirming its importance in early development. </p><p>By RT-PCR analysis, Arts et al. (2007) detected strong expression of RPGRIP1L in adult human testis and kidney and fetal eye, brain, and kidney. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Delous et al. (2007) determined that the RPGRIP1L gene contains 27 exons and spans about 103.2 kb. Exon 27 is noncoding. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (1999) mapped the KIAA1005 gene to chromosome 16. By positional cloning, Delous et al. (2007) mapped the RPGRIP1L gene to chromosome 16q12.2. </p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Delous et al. (2007) demonstrated that RPGRIP1L localized to primary cilia and centrosomes in ciliated Madin-Darby canine kidney (MDCK) II cells. RPGRIP1L colocalized at the basal body-centrosome complex with nephrocystin-4 (NPHP4; 607215), nephrocystin-6 (NPHP6; 610142), and the centrosome marker gamma-tubulin (TUBG1; 191135). Some cells showed punctate RPGRIP1L localization along the ciliary axoneme or in the cytoplasm during cell division. </p><p>Arts et al. (2007) found that the C2 domain of RPGRIP1L interacts with NPHP4 by GST pull-down and coimmunoprecipitation. Cellular immunohistochemical studies of different animal tissues, including retina, brain, and kidney, showed that RPGRIP1L localized to basal bodies and ciliary axonemes at the base of primary cilia, where it interacted with NPHP4. </p><p>Williams et al. (2011) showed that the conserved proteins Mks1 (609883), Mksr1 (B9D1), Mksr2 (B9D2; 611951), Tmem67 (609884), Rpgrip1l, Cc2d2a (612013), Nphp1 (607100), and Nphp4 functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p><strong><em>Joubert Syndrome 7</em></strong></p><p>
|
|
In patients with Joubert syndrome (JBTS7; 611560), Delous et al. (2007) identified homozygous or compound heterozygous mutations in the RPGRIP1L gene (610937.0001-610937.0004). All patients had renal disease in addition to the classic neurologic abnormalities of Joubert syndrome. </p><p>In patients with JBTS7, Arts et al. (2007) identified homozygous or compound heterozygous mutations in the RPGRIP1L gene (see, e.g., 610937.0008-610937.0009). The phenotype was variable with respect to renal disease. None of the patients had retinal disease. </p><p>Wolf et al. (2007) identified 4 different RPGRIP1L mutations in 5 of 56 families with Joubert syndrome who were negative for mutations in other Joubert-related genes. Two families had the same mutation (T615P; 610937.0002). All patients with RPGRIP1L mutations had nephronophthisis (NPHP) with impaired renal function and mental retardation. Additional variable features included oculomotor apraxia, liver fibrosis, cerebellar vermis hypoplasia, impaired vision, and ocular coloboma. Only 1 patient had retinitis pigmentosa. </p><p><strong><em>Meckel Syndrome 5</em></strong></p><p>
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In 3 patients with Meckel syndrome type 5 (MKS5; 611561), Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007). The results indicated that complete loss of RPGRIP1L results in the more severe phenotype of Meckel syndrome, whereas partial loss results in the less severe Joubert syndrome. However, the authors noted that both phenotypes result from the same underlying defect and thus represent a phenotypic spectrum. </p><p><strong><em>COACH Syndrome 3</em></strong></p><p>
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Doherty et al. (2010) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene (610937.0011 and 610937.0012) in a patient with a diagnosis of COACH syndrome (COACH3; 619113), defined as Joubert syndrome with congenital hepatic fibrosis. Other features in this patient included mental retardation, the molar tooth sign on brain MRI, and nephronophthisis. The findings indicated that COACH syndrome can be considered a subtype of Joubert syndrome with liver involvement. The proposed ciliary function for RPGRIP1L supported a unifying underlying pathophysiology for liver disease in these disorders. </p><p><strong><em>Retinitis Pigmentosa in Ciliopathies, Modifier of</em></strong></p><p>
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Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L gene (A229T; 610937.0013) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Delous et al. (2007) found that Rpgrip1l-null mouse fetuses had head abnormalities ranging from pronounced rounded shape of the skull to exencephaly. The eyes were either not detectable or small and deep-set. Cleft upper lips and hypoplastic lower jaws were frequent. There were multiple brain anomalies, including dilated ventricles, cerebellar hypoplasia, and absence of the corpus callosum. Some of the fetuses at later gestation showed microcystic dilatations of proximal kidney tubules and bile duct proliferation in the liver. </p><p>Laclef et al. (2015) had previously found that forebrain neuroepithelial cells of Rpgrip1l -/- mouse embryos had abnormal cilia devoid of axoneme. Rpgrip1l -/- telencephalon also showed severe ventrilization, which led to agenesis of olfactory bulbs and formation of ectopic olfactory bulb-like structures. Laclef et al. (2015) found that Rpgrip1l -/- guidepost and progenitor cells, which are involved in corpus callosum formation, also failed to form proper cilia. The coirticoseptal boundary in medial telencephalon of embryonic day-15.5 (E15.5) Rpgrip1l -/- embryos was severely perturbed, with cells of ventral identity present in the dorsal compartment and vice versa. Rpgrip1l -/- mutants also showed misexpression of several guidance molecules, including netrin-1 (NTN1; 601614) and Slit2 (603746). Patterning of commissural plate was already affected in E12.5 mutants. Reintroduction of the short repressor isoform of Gli3 (165240), Gli3r, restored normal telencephalic midline patterning and corpus collosum formation in the absence of primary cilia in Rpgrip1l -/- embryos. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 JOUBERT SYNDROME 7</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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RPGRIP1L, LYS233TER
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<br />
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SNP: rs121918197,
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gnomAD: rs121918197,
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ClinVar: RCV000001123, RCV000367935, RCV001385849, RCV001781156, RCV001831499
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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 French patient with Joubert syndrome (JBTS7; 611560), Delous et al. (2007) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 697A-T transversion in exon 6 resulting in a lys233-to-ter (K233X) substitution, and a T615P (610937.0002) mutation. The child had mental retardation, cerebellar ataxia, nephronophthisis, oculomotor apraxia, ptosis, and genu valgum. End-stage renal disease occurred at age 6 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 JOUBERT SYNDROME 7</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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RPGRIP1L, THR615PRO
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<br />
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SNP: rs121918198,
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gnomAD: rs121918198,
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ClinVar: RCV000001124, RCV000393725, RCV000689745, RCV001271279, RCV002482812, RCV003155007, RCV004528062
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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 French patient with Joubert syndrome (JBTS7; 611560), Delous et al. (2007) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 1843A-C transversion in exon 15 of the RPGRIP1L gene resulting in a thr615-to-pro (T615P) substitution and a K233X (610937.0001) mutation. A second unrelated French patient with a similar phenotype was compound heterozygous for T615P and Q253X (610937.0003). Arts et al. (2007) found the T615P mutation in compound heterozygosity with a nonsense mutation (Q684X; 610937.0009) in a patient with Joubert syndrome. </p><p>Brancati et al. (2008) reported a brother and sister with Joubert syndrome who were homozygous for the T615P mutation. Both presented with developmental delay, growth and mental retardation, nephronophthisis, and severe scoliosis. Visual acuity, fundus examination, and liver function were normal. There was clinical variability between the 2 sibs regarding some features, with the sister being more severely affected. She died at age 17.5 years from renal failure, while he was still alive at age 22 years after kidney transplant. Both had the molar tooth sign on MRI. </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 7</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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RPGRIP1L, GLN253TER
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<br />
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SNP: rs121918199,
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gnomAD: rs121918199,
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ClinVar: RCV000001125, RCV001067857, RCV001831500, RCV003398409, RCV005016221
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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 French patient with Joubert syndrome (JBTS7; 611560), Delous et al. (2007) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 757C-T transition in exon 6 resulting in a gln253-to-ter (Q253X) substitution and a T615P (610937.0002) mutation. The patient had mental retardation, cerebellar ataxia, nephronophthisis, oculomotor apraxia, the molar tooth sign, ptosis, and scoliosis. </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>.0004 JOUBERT SYNDROME 7</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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RPGRIP1L, ALA695PRO
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<br />
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SNP: rs121918200,
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gnomAD: rs121918200,
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|
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ClinVar: RCV000001126
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 French sibs with Joubert syndrome (JBTS7; 611560), Delous et al. (2007) identified a homozygous 2083G-C transversion in exon 15 of the RPGRIP1L gene, resulting in an ala695-to-pro (A695P) substitution. Both sibs had scoliosis, oculomotor apraxia, nystagmus, the molar tooth sign, and nephronophthisis with end-stage renal disease by age 9 years. Only 1 had mild mental retardation. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MECKEL SYNDROME, TYPE 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPGRIP1L, ARG132TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918201,
|
|
|
|
|
|
|
|
ClinVar: RCV000001127, RCV001042174
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 presumably related Moroccan fetuses diagnosed with Meckel syndrome (MKS5; 611561) at 15 to 16 weeks' gestation by ultrasound, Delous et al. (2007) identified a homozygous 394A-T transversion in exon 4 of the RPGRIP1L gene, resulting in an arg132-to-ter (R132X) substitution. Post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, cystic kidney disease, and hepatic bile duct proliferation. One fetus showed bowing of the long bones. The severe phenotype corresponded to the complete loss of RPGRIP1L function. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MECKEL SYNDROME, TYPE 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPGRIP1L, GLN345TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918202,
|
|
|
|
|
|
|
|
ClinVar: RCV000001128, RCV003764506
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French fetus diagnosed with Meckel syndrome (MKS5; 611561) at 16 weeks' gestation by ultrasound, Delous et al. (2007) identified compound heterozygosity for 2 truncation mutations in the RPGRIP1L gene: a 1033C-T transition in exon 9 resulting in a gln345-to-ter (Q345X) substitution, and a 2614C-T transition in exon 17 resulting in a gln872-to-ter (Q872X; 610937.0007) substitution. Post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, cystic kidney disease, hepatic bile duct proliferation, and bowing of the long bones. The severe phenotype corresponded to the complete loss of RPGRIP1L function. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MECKEL SYNDROME, TYPE 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPGRIP1L, GLN872TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918203,
|
|
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|
|
|
gnomAD: rs121918203,
|
|
|
|
|
|
ClinVar: RCV000033207, RCV000762961, RCV000779628, RCV000790748, RCV001059320, RCV001831501, RCV004017218, RCV005007803
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gln872-to-ter (Q872X) mutation in the RPGRIP1L gene that was found in compound heterozygous state in a fetus diagnosed with Meckel syndrome (MKS5; 611561) by Delous et al. (2007), see 610937.0006. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 JOUBERT SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPGRIP1L, 1-BP DEL, 1721A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs863225216,
|
|
|
|
|
|
|
|
ClinVar: RCV000201652
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish girl with Joubert syndrome (JBTS7; 611560), born of consanguineous parents, Arts et al. (2007) identified a homozygous 1-bp deletion (1721delA) in the RPGRIP1L gene, resulting in a frameshift and premature protein truncation before the C2 domain. The 10-year-old girl had molar tooth sign, hypotonia, ataxia, mental retardation, abnormal eye movements, and renal disease. Retinal disease was not present. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 JOUBERT SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPGRIP1L, GLN684TER
|
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<br />
|
|
|
|
SNP: rs121918204,
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|
|
|
|
|
gnomAD: rs121918204,
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|
|
|
|
|
ClinVar: RCV000001131, RCV000762962, RCV000824619, RCV001271277, RCV001781157, RCV001813927, RCV005007804
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Joubert syndrome (JBTS7; 611560), Arts et al. (2007) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 2050C-T transition, resulting in a gln684-to-ter (Q684X) substitution, and a T615P (610937.0002) mutation. The Q684X mutation was predicted to truncate the protein before the C2 domain. In vitro functional expression studies showed that both mutant proteins disrupted NPHP4 binding. At age 5, the child had the molar tooth sign, hypotonia, ataxia, mental retardation, abnormal eye movements, postaxial polydactyly, and encephalocele. Renal and retinal disease were not present. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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|
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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>.0010 JOUBERT SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RPGRIP1L, 1-BP DEL, 2268A
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<br />
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|
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SNP: rs387906243,
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|
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ClinVar: RCV000001132
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|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Moroccan girl with Joubert syndrome (JBTS7;611560), born of consanguineous parents, Brancati et al. (2008) identified a homozygous 1-bp deletion (2268delA) in exon 16 of the RPGRIP1L gene, resulting in a frameshift and premature protein truncation. She had episodes of hyperpnea and apnea and delayed milestones. At age 1 year, she developed renal dysfunction associated with small kidneys with increased echogenicity, loss of corticomedullary differentiation, and multiple cysts compatible with nephronophthisis. At age 4 years, she had chronic renal failure, marked growth retardation, and severe psychomotor delay with lack of head control and inability to speak any meaningful words. The molar tooth sign was present on MRI. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 COACH SYNDROME 3 (1 patient)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
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RPGRIP1L, ARG805TER
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<br />
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SNP: rs145665129,
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gnomAD: rs145665129,
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ClinVar: RCV000001134, RCV000201645, RCV000733537, RCV001382825, RCV001831502, RCV002490288
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</span>
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<p>In a 17-year-old male with COACH syndrome-3 (COACH3; 619113), defined as Joubert syndrome with liver disease, Doherty et al. (2010) identified compound heterozygosity for 2 mutations in the RPGRIP1L gene: a 2413C-T transition, resulting in an arg805-to-ter (R805X) substitution, and a 1975T-C transition, resulting in a ser659-to-pro (S659P; 610937.0012) substitution. The patient had abnormal breathing pattern, mental retardation, molar tooth sign on brain MRI, congenital hepatic fibrosis with bile duct abnormalities, and nephronophthisis requiring renal transplant. </p>
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<span class="mim-font">
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<strong>.0012 COACH SYNDROME 3 (1 patient)</strong>
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RPGRIP1L, SER659PRO
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<br />
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SNP: rs267607020,
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gnomAD: rs267607020,
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ClinVar: RCV000001135, RCV000201757
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<p>For discussion of the ser659-to-pro (S659P) mutation in the RPGRIP1L gene that was found in compound heterozygous state in a patient with COACH syndrome-3 (COACH3; 619113) by Doherty et al. (2010), see 610937.0011. </p>
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<h4>
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<span class="mim-font">
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<strong>.0013 RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF</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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RPGRIP1L, ALA229THR ({dbSNP rs61747071})
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<br />
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SNP: rs61747071,
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gnomAD: rs61747071,
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ClinVar: RCV000001133, RCV000035002, RCV000114223, RCV000234815, RCV000332989, RCV000473873, RCV001094311, RCV001094370, RCV001705578, RCV002293972
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<p>Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L gene, a 685G-A transition, resulting in an ala229-to-thr (A229T) substitution (rs61747071), may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations. The 229T allele was significantly enriched among a group of 487 patients with ciliopathy and retinal pigmentosa, including LCA (204000), Senior-Loken syndrome (266900), Joubert syndrome (213300), and BBS (209900), compared to 115 patients with ciliopathy without retinal pigmentosa, including NPHP (256100) and MKS (249000) (p = 1.66 x 10(-5)). In vitro functional expression studies showed that the 229T allele had decreased ability to bind to RPGR compared to the 229A allele. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<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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Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R.
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<strong>Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.</strong>
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Nature Genet. 39: 882-888, 2007.
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[PubMed: 17558407]
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[Full Text: https://doi.org/10.1038/ng2069]
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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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Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., the International JSRD Study Group, Dallapiccola, B., Gleeson, J. G., Valente, E. M.
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<strong>RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.</strong>
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Clin. Genet. 74: 164-170, 2008.
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[PubMed: 18565097]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01047.x]
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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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Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others.
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<strong>The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.</strong>
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Nature Genet. 39: 875-881, 2007.
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[PubMed: 17558409]
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[Full Text: https://doi.org/10.1038/ng2039]
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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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Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., and 11 others.
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<strong>Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).</strong>
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J. Med. Genet. 47: 8-21, 2010.
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[PubMed: 19574260]
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[Full Text: https://doi.org/10.1136/jmg.2009.067249]
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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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Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
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<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong>
|
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Nature Genet. 41: 739-745, 2009.
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[PubMed: 19430481]
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[Full Text: https://doi.org/10.1038/ng.366]
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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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Laclef, C., Anselme, I., Besse, L., Catala, M., Palmyre, A., Baas, D., Paschaki, M., Pedraza, M., Metin, C., Durand, B., Schneider-Maunoury, S.
|
|
<strong>The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.</strong>
|
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Hum. Molec. Genet. 24: 4997-5014, 2015.
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[PubMed: 26071364]
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[Full Text: https://doi.org/10.1093/hmg/ddv221]
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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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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
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<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
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DNA Res. 6: 63-70, 1999.
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[PubMed: 10231032]
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[Full Text: https://doi.org/10.1093/dnares/6.1.63]
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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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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
|
|
<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
|
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J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: 21422230]
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[Full Text: https://doi.org/10.1083/jcb.201012116]
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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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Wolf, M. T. F., Saunier, S., O'Toole, J. F., Wanner, N., Groshong, T., Attanasio, M., Salomon, R., Stallmach, T., Sayer, J. A., Waldherr, R., Griebel, M., Oh, J., Neuhaus, T. J., Josefiak, U., Antignac, C., Otto, E. A., Hildebrandt, F.
|
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<strong>Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.</strong>
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Kidney Int. 72: 1520-1526, 2007.
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[PubMed: 17960139]
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[Full Text: https://doi.org/10.1038/sj.ki.5002630]
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</p>
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</li>
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</ol>
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<div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 02/26/2016<br>Patricia A. Hartz - updated : 4/29/2011<br>Cassandra L. Kniffin - updated : 6/16/2010<br>Cassandra L. Kniffin - updated : 6/15/2009<br>Cassandra L. Kniffin - updated : 4/21/2009<br>Cassandra L. Kniffin - updated : 8/18/2008<br>Cassandra L. Kniffin - updated : 10/29/2007
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/17/2007
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Edit History:
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carol : 12/01/2020<br>mgross : 02/26/2016<br>alopez : 4/22/2015<br>mcolton : 4/16/2015<br>carol : 1/18/2012<br>carol : 11/22/2011<br>mgross : 5/19/2011<br>mgross : 5/19/2011<br>terry : 4/29/2011<br>mgross : 4/28/2011<br>wwang : 6/24/2010<br>ckniffin : 6/16/2010<br>wwang : 6/18/2009<br>ckniffin : 6/15/2009<br>wwang : 4/30/2009<br>ckniffin : 4/21/2009<br>wwang : 8/25/2008<br>ckniffin : 8/18/2008<br>wwang : 11/16/2007<br>ckniffin : 10/29/2007<br>carol : 7/6/2007<br>mgross : 4/17/2007
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