2971 lines
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Entry
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- *611663 - TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20
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- OMIM
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<p>
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<span class="h4">*611663</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611663">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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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<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=ENSG00000125875;t=ENST00000354200" 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=128637" 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=611663" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000125875;t=ENST00000354200" 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_144628,NR_111901" 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_144628" 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=611663" 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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<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=15472&isoform_id=15472_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/TBC1D20" 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/4768836,15929052,21389447,34395569,34533802,119631075,119631076,119631077,158256728,222080016" 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/Q96BZ9" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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<div 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=128637" 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=ENSG00000125875;t=ENST00000354200" 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=TBC1D20" 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=TBC1D20" 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+128637" 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/TBC1D20" 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:128637" 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/128637" 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=chr20&hgg_gene=ENST00000354200.5&hgg_start=435480&hgg_end=462533&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16133" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/tbc1d20" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611663[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=611663[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000125875" 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.gwascentral.org/search?q=TBC1D20" 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=TBC1D20" 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=TBC1D20&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/PA25683" 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:16133" 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://flybase.org/reports/FBgn0040005.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1914481" 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/TBC1D20#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:1914481" 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/128637/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=128637" 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=WBGene00013196;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-050626-61" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TBC1D20&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611663
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME 20 OPEN READING FRAME 140; C20ORF140
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TBC1D20" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TBC1D20</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/20/12?start=-3&limit=10&highlight=12">20p13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:435480-462533&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'})">20:435,480-462,533</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/20/12?start=-3&limit=10&highlight=12">
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20p13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Warburg micro syndrome 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615663"> 615663 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/611663" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611663" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#5" class="mim-tip-reference" title="Sklan, E. H., Staschke, K., Oakes, T. M., Elazar, M., Winters, M., Aroeti, B., Danieli, T., Glenn, J. S. <strong>A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication.</strong> J. Virol. 81: 11096-11105, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17686842[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/10.1128/JVI.01249-07" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17686842">Sklan et al. (2007)</a> used a 2-hybrid screen to isolate proteins that bind with the hepatitis C virus (HCV) nonstructural protein NS5A. One such protein, TBC1D20, contains a TBC (Tre2, Bub2, and Cdc16) domain found in most Rab-GTPase-activating proteins (GAPs), which are important in vesicular membrane transport. Immunoprecipitation of tagged TBC1D20 showed that the precipitate included HCV NS5A, confirming the interaction. Deletion experiments mapped the interaction domain with NS5A to the C-terminal domain of TBC1D20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17686842" 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="Scott, A. F. <strong>Personal Communication.</strong> Baltimore, Md. 12/12/2007."None>Scott (2007)</a> mapped the TBC1D20 gene to chromosome 20p13 based on an alignment of the TBC1D20 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL121747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL121747</a>) with the genomic sequence (build 36.2).</p>
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<p><a href="#5" class="mim-tip-reference" title="Sklan, E. H., Staschke, K., Oakes, T. M., Elazar, M., Winters, M., Aroeti, B., Danieli, T., Glenn, J. S. <strong>A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication.</strong> J. Virol. 81: 11096-11105, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17686842[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/10.1128/JVI.01249-07" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17686842">Sklan et al. (2007)</a> showed that reduction of TBC1D20 expression by siRNA severely impaired HCV replication and inhibited new infection. The authors noted that the interaction of HCV with TBC1D20, a protein that may mediate endocytosis, trafficking, and sorting of cellular proteins, represents a new mechanism by which viruses could subvert the host cell and that this insight may offer a new route for pharmacologic intervention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17686842" 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="#4" class="mim-tip-reference" title="Sklan, E. H., Serrano, R. L., Einav, S., Pfeffer, S. R., Lambright, D. G., Glenn, J. S. <strong>TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication.</strong> J. Biol. Chem. 282: 36354-36361, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17901050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17901050</a>] [<a href="https://doi.org/10.1074/jbc.M705221200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17901050">Sklan et al. (2007)</a> showed that TBC1D20 colocalized with calnexin (<a href="/entry/114217">114217</a>) in the endoplasmic reticulum, which led them to investigate Rabs associated with the ER as possible targets of TBC1D20. They identified RAB1 (<a href="/entry/179508">179508</a>) as the GTPase activated by TBC1D20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17901050" 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 cohort of 77 patients with a spectrum of eye, brain, and endocrine abnormalities, all of whom were negative for mutation in the known Warburg Micro syndrome genes RAB3GAP1 (<a href="/entry/602536">602536</a>), RAB3GAP2 (<a href="/entry/609275">609275</a>), and RAB18 (<a href="/entry/602207">602207</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients with typical features of Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>) from 5 families of different ethnic origins (<a href="#0001">611663.0001</a>-<a href="#0005">611663.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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 3 Egyptian sibs, born to consanguineous parents, with WARBM4, <a href="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> identified homozygosity for the R67X mutation in the TBC1D20 gene (<a href="#0001">611663.0001</a>) that was previously identified by <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a>. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=32740904+24239381" 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="#6" class="mim-tip-reference" title="Varnum, D. S. <strong>Blind-sterile: a new mutation on chromosome 2 of the house mouse.</strong> J. Hered. 74: 206-207, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6863898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6863898</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jhered.a109768" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6863898">Varnum (1983)</a> described mice with a recessive mutation designated 'blind-sterile' (bs). Affected adults had glossy coats and eyes that were slightly smaller than normal with bilateral lenticular cataracts. The cataracts did not enlarge with age, and the cortex of the lens was transparent and appeared normal. Affected females were fertile and produced normal-sized litters, whereas affected males, which had testes of near-normal size, did not reproduce, and the homozygous bs/bs vas deferens rarely contained sperm. Histology of bs/bs testes showed normal spermatogonia, spermatocysts, and primary spermatids, but spermatogenesis appeared to stop after formation of the spermatid, with only a few areas of condensed nuclear material or a few poorly formed sperm heads observed. Inheritance data were consistent with bs as a recessive autosomal mutation with good penetrance, and showed that it was located on mouse chromosome 2 near agouti (see <a href="/entry/600201">600201</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6863898" 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="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> studied bs mice and observed that lens abnormalities appeared at embryonic day (E) 17.5, at which time lenses appeared smaller in size and exhibited degenerated nuclear fibers with small vacuoles between cortical fibers. By postnatal day (P) 10, the bs lens phenotype was characterized by severely degenerated TUNEL(+) nuclear fiber cells, and by P28, severe lens degeneration with large vacuoles was present throughout the lens body, accompanied by rupture of the lens capsule and lenticular material in the vitreous cavity. <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> concluded that bs cataracts are associated with a defect in lens fiber cell maturation with an embryonic onset. In addition, adult bs testes were significantly smaller than wildtype, and exhibited significant depletion of germ cells. Peanut agglutinin (PNA) staining confirmed the previously reported failure of acrosome formation in bs spermatids. Evaluation of mouse embryonic fibroblasts showed enlarged Golgi morphology and aberrant lipid droplet formation. Given the severe brain abnormalities observed in patients with TBC1D20 mutations, <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> evaluated brains from bs mice, but identified no obvious morphologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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 2 Polish sibs with Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> identified homozygosity for a c.199C-T transition in exon 2 of the TBC1D20 gene, resulting in an arg67-to-ter (R67X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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 3 Egyptian sibs, born to consanguineous parents, with WARBM4, <a href="#1" class="mim-tip-reference" title="Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S. <strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong> Clin. Genet. 98: 445-456, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>] [<a href="https://doi.org/10.1111/cge.13825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32740904">Abdel-Hamid et al. (2020)</a> identified homozygosity for the R67X mutation in the TBC1D20 gene. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" 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">rs587777158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777158;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=rs587777158" 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=rs587777158" 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=RCV000087139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087139</a>
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<p>In a 6-year-old Dutch girl with Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> identified homozygosity for a c.292C-T transition in exon 3 of the TBC1D20 gene, resulting in a gln98-to-ter (Q98X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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">rs587777159 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777159;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=rs587777159" 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=rs587777159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Pakistani sisters with Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> identified homozygosity for a 2-bp deletion (c.352_353delCA) in exon 4 of the TBC1D20 gene, causing a frameshift predicted to result in the addition of 9 novel amino acids and a premature termination codon (Gln118GlufsTer9). The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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 14-year-old Egyptian boy with Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> identified homozygosity for a c.672G-A transition in exon 6 of the TBC1D20 gene, resulting in a trp224-to-ter (W224X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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 15-year-old Pakistani girl with Warburg Micro syndrome (WARBM4; <a href="/entry/615663">615663</a>), <a href="#2" class="mim-tip-reference" title="Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others. <strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong> Am. J. Hum. Genet. 93: 1001-1014, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24239381">Liegel et al. (2013)</a> identified homozygosity for a microdeletion encompassing exons 2 through 8 of the TBC1D20 gene. The mutation, which was confirmed by quantitative PCR, was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. Parental DNA was not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24239381" 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>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong>
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Clin. Genet. 98: 445-456, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32740904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32740904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32740904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others.
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<strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong>
|
|
Am. J. Hum. Genet. 93: 1001-1014, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24239381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24239381</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24239381[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=24239381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.10.011" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Scott2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Scott, A. F.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 12/12/2007.
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Sklan2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Sklan, E. H., Serrano, R. L., Einav, S., Pfeffer, S. R., Lambright, D. G., Glenn, J. S.
|
|
<strong>TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication.</strong>
|
|
J. Biol. Chem. 282: 36354-36361, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17901050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17901050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17901050" 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/10.1074/jbc.M705221200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Sklan2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sklan, E. H., Staschke, K., Oakes, T. M., Elazar, M., Winters, M., Aroeti, B., Danieli, T., Glenn, J. S.
|
|
<strong>A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication.</strong>
|
|
J. Virol. 81: 11096-11105, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17686842[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=17686842" 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/10.1128/JVI.01249-07" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Varnum1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Varnum, D. S.
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|
<strong>Blind-sterile: a new mutation on chromosome 2 of the house mouse.</strong>
|
|
J. Hered. 74: 206-207, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6863898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6863898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6863898" 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/oxfordjournals.jhered.a109768" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/07/2021
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 12/12/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/02/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/07/2021<br>carol : 07/23/2018<br>alopez : 02/24/2014<br>mcolton : 2/20/2014<br>carol : 12/13/2007<br>carol : 12/12/2007
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611663
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME 20 OPEN READING FRAME 140; C20ORF140
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TBC1D20</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 20p13
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:435,480-462,533 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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20p13
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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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|
Warburg micro syndrome 4
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
615663
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Sklan et al. (2007) used a 2-hybrid screen to isolate proteins that bind with the hepatitis C virus (HCV) nonstructural protein NS5A. One such protein, TBC1D20, contains a TBC (Tre2, Bub2, and Cdc16) domain found in most Rab-GTPase-activating proteins (GAPs), which are important in vesicular membrane transport. Immunoprecipitation of tagged TBC1D20 showed that the precipitate included HCV NS5A, confirming the interaction. Deletion experiments mapped the interaction domain with NS5A to the C-terminal domain of TBC1D20. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Scott (2007) mapped the TBC1D20 gene to chromosome 20p13 based on an alignment of the TBC1D20 sequence (GenBank AL121747) with the genomic sequence (build 36.2).</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>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sklan et al. (2007) showed that reduction of TBC1D20 expression by siRNA severely impaired HCV replication and inhibited new infection. The authors noted that the interaction of HCV with TBC1D20, a protein that may mediate endocytosis, trafficking, and sorting of cellular proteins, represents a new mechanism by which viruses could subvert the host cell and that this insight may offer a new route for pharmacologic intervention. </p><p>Sklan et al. (2007) showed that TBC1D20 colocalized with calnexin (114217) in the endoplasmic reticulum, which led them to investigate Rabs associated with the ER as possible targets of TBC1D20. They identified RAB1 (179508) as the GTPase activated by TBC1D20. </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>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>In a cohort of 77 patients with a spectrum of eye, brain, and endocrine abnormalities, all of whom were negative for mutation in the known Warburg Micro syndrome genes RAB3GAP1 (602536), RAB3GAP2 (609275), and RAB18 (602207), Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients with typical features of Warburg Micro syndrome (WARBM4; 615663) from 5 families of different ethnic origins (611663.0001-611663.0005). </p><p>In 3 Egyptian sibs, born to consanguineous parents, with WARBM4, Abdel-Hamid et al. (2020) identified homozygosity for the R67X mutation in the TBC1D20 gene (611663.0001) that was previously identified by Liegel et al. (2013). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Varnum (1983) described mice with a recessive mutation designated 'blind-sterile' (bs). Affected adults had glossy coats and eyes that were slightly smaller than normal with bilateral lenticular cataracts. The cataracts did not enlarge with age, and the cortex of the lens was transparent and appeared normal. Affected females were fertile and produced normal-sized litters, whereas affected males, which had testes of near-normal size, did not reproduce, and the homozygous bs/bs vas deferens rarely contained sperm. Histology of bs/bs testes showed normal spermatogonia, spermatocysts, and primary spermatids, but spermatogenesis appeared to stop after formation of the spermatid, with only a few areas of condensed nuclear material or a few poorly formed sperm heads observed. Inheritance data were consistent with bs as a recessive autosomal mutation with good penetrance, and showed that it was located on mouse chromosome 2 near agouti (see 600201). </p><p>Liegel et al. (2013) studied bs mice and observed that lens abnormalities appeared at embryonic day (E) 17.5, at which time lenses appeared smaller in size and exhibited degenerated nuclear fibers with small vacuoles between cortical fibers. By postnatal day (P) 10, the bs lens phenotype was characterized by severely degenerated TUNEL(+) nuclear fiber cells, and by P28, severe lens degeneration with large vacuoles was present throughout the lens body, accompanied by rupture of the lens capsule and lenticular material in the vitreous cavity. Liegel et al. (2013) concluded that bs cataracts are associated with a defect in lens fiber cell maturation with an embryonic onset. In addition, adult bs testes were significantly smaller than wildtype, and exhibited significant depletion of germ cells. Peanut agglutinin (PNA) staining confirmed the previously reported failure of acrosome formation in bs spermatids. Evaluation of mouse embryonic fibroblasts showed enlarged Golgi morphology and aberrant lipid droplet formation. Given the severe brain abnormalities observed in patients with TBC1D20 mutations, Liegel et al. (2013) evaluated brains from bs mice, but identified no obvious morphologic abnormalities. </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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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 WARBURG MICRO SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
|
|
TBC1D20, ARG67TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777157,
|
|
|
|
|
|
gnomAD: rs587777157,
|
|
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|
|
|
ClinVar: RCV000087138
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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<p>In 2 Polish sibs with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a c.199C-T transition in exon 2 of the TBC1D20 gene, resulting in an arg67-to-ter (R67X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. </p><p>In 3 Egyptian sibs, born to consanguineous parents, with WARBM4, Abdel-Hamid et al. (2020) identified homozygosity for the R67X mutation in the TBC1D20 gene. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0002 WARBURG MICRO SYNDROME 4</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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TBC1D20, GLN98TER
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<br />
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SNP: rs587777158,
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ClinVar: RCV000087139
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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 6-year-old Dutch girl with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a c.292C-T transition in exon 3 of the TBC1D20 gene, resulting in a gln98-to-ter (Q98X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0003 WARBURG MICRO SYNDROME 4</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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TBC1D20, 2-BP DEL, 352CA
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<br />
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SNP: rs587777159,
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ClinVar: RCV000087140
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 2 Pakistani sisters with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a 2-bp deletion (c.352_353delCA) in exon 4 of the TBC1D20 gene, causing a frameshift predicted to result in the addition of 9 novel amino acids and a premature termination codon (Gln118GlufsTer9). The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. </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>.0004 WARBURG MICRO SYNDROME 4</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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TBC1D20, TRP224TER
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<br />
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SNP: rs587777160,
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ClinVar: RCV000087141
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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 14-year-old Egyptian boy with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a c.672G-A transition in exon 6 of the TBC1D20 gene, resulting in a trp224-to-ter (W224X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. </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>.0005 WARBURG MICRO SYNDROME 4</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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TBC1D20, EX2-8 DEL
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<br />
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ClinVar: RCV000087142
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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 15-year-old Pakistani girl with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a microdeletion encompassing exons 2 through 8 of the TBC1D20 gene. The mutation, which was confirmed by quantitative PCR, was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 controls. Parental DNA was not available. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Ismail, S. R., Desouky, L. M., Issa, M. Y., Effat, L. K., Zaki, M. S.
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<strong>Micro and Martsolf syndromes in 34 new patients: refining the phenotypic spectrum and further molecular insights.</strong>
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Clin. Genet. 98: 445-456, 2020.
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[PubMed: 32740904]
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[Full Text: https://doi.org/10.1111/cge.13825]
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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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Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendahl, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., and 11 others.
|
|
<strong>Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg Micro syndrome in humans.</strong>
|
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Am. J. Hum. Genet. 93: 1001-1014, 2013.
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[PubMed: 24239381]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.10.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Scott, A. F.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/12/2007.
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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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Sklan, E. H., Serrano, R. L., Einav, S., Pfeffer, S. R., Lambright, D. G., Glenn, J. S.
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<strong>TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication.</strong>
|
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J. Biol. Chem. 282: 36354-36361, 2007.
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[PubMed: 17901050]
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[Full Text: https://doi.org/10.1074/jbc.M705221200]
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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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Sklan, E. H., Staschke, K., Oakes, T. M., Elazar, M., Winters, M., Aroeti, B., Danieli, T., Glenn, J. S.
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<strong>A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication.</strong>
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J. Virol. 81: 11096-11105, 2007.
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[PubMed: 17686842]
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[Full Text: https://doi.org/10.1128/JVI.01249-07]
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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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Varnum, D. S.
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<strong>Blind-sterile: a new mutation on chromosome 2 of the house mouse.</strong>
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J. Hered. 74: 206-207, 1983.
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[PubMed: 6863898]
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[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a109768]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="row">
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<span class="text-nowrap mim-text-font">
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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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Hilary J. Vernon - updated : 06/07/2021
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</span>
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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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Alan F. Scott : 12/12/2007
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carol : 10/02/2023<br>carol : 06/07/2021<br>carol : 07/23/2018<br>alopez : 02/24/2014<br>mcolton : 2/20/2014<br>carol : 12/13/2007<br>carol : 12/12/2007
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