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Entry
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- *602536 - RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*602536</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602536">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000115839;t=ENST00000264158" 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=22930" 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=602536" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000115839;t=ENST00000264158" 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_001172435,NM_012233,XM_011510823,XM_011510825,XM_047443732,XR_001738674" 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_012233" 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=602536" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=16002&isoform_id=16002_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/RAB3GAP1" 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/505100,18606161,52545537,55743118,62511099,119632042,119632043,119632044,119632045,119632046,148922304,222079958,289547212,767917250,767917254,2217326410,2462571163,2462571166,2462571168" 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/Q15042" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=22930" 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=ENSG00000115839;t=ENST00000264158" 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=RAB3GAP1" 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=RAB3GAP1" 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+22930" 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/RAB3GAP1" 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:22930" 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/22930" 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=chr2&hgg_gene=ENST00000264158.13&hgg_start=135052292&hgg_end=135176396&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17063" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17063" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/rab3gap1" 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=602536[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 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=602536[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RAB3GAP1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000115839" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=RAB3GAP1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=RAB3GAP1" 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=RAB3GAP1" 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=RAB3GAP1&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/PA134969639" 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:17063" 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/FBgn0051935.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:2445001" 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/RAB3GAP1#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:2445001" 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/22930/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001970/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=22930" 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=WBGene00004317;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-061027-53" 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=RAB3GAP1&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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602536
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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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RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1
|
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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>
|
|
<span class="mim-font">
|
|
RAB3GAP<br />
|
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RAB3GAP, 130-KD SUBUNIT<br />
|
|
RAB3GAP, CATALYTIC SUBUNIT<br />
|
|
p130<br />
|
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WARBM1 GENE<br />
|
|
KIAA0066
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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=RAB3GAP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RAB3GAP1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/657?start=-3&limit=10&highlight=657">2q21.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:135052292-135176396&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'})">2:135,052,292-135,176,396</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619420,600118" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/657?start=-3&limit=10&highlight=657">
|
|
2q21.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Martsolf syndrome 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619420"> 619420 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Warburg micro syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/600118"> 600118 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
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<p>Members of the RAB3 protein family (see RAB3A; <a href="/entry/179490">179490</a>) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (<a href="/entry/609275">609275</a>). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (<a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" 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="#4" class="mim-tip-reference" title="Fukui, K., Sasaki, T., Imazumi, K., Matsuura, Y., Nakanishi, H., Takai, Y. <strong>Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.</strong> J. Biol. Chem. 272: 4655-4658, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9030515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9030515</a>] [<a href="https://doi.org/10.1074/jbc.272.8.4655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9030515">Fukui et al. (1997)</a> isolated a protein from rat brain that showed GAP activity for Rab3a. They used peptide sequences from this Rab3gap to clone a corresponding cDNA from a human brain library. The human RAB3GAP cDNA encodes a 981-amino acid polypeptide. Northern blot analysis showed that RAB3GAP was ubiquitously expressed in human tissues as a 4.5-kb mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9030515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By coimmunoprecipitation of rat brain synaptic soluble fractions, <a href="#10" class="mim-tip-reference" title="Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y. <strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong> J. Biol. Chem. 273: 24781-24785, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>] [<a href="https://doi.org/10.1074/jbc.273.38.24781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733780">Nagano et al. (1998)</a> found a strong direct interaction between a 150-kD protein (p150) and a 130-kD protein (p130) that showed GAP activity toward Rab3 family members. p150 did not show GAP activity, and the interaction between p150 and p130 did not alter the activity of p130 or the subcellular distribution of the 2 proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" 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="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> determined that the RAB3GAP1 gene contains 24 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified an alternative transcript of RAB3GAP1, ENST00000539493, with an alternative first coding exon. After cloning from human cDNA, sequencing confirmed that the cloned transcript contained the alternative first coding exon, but the 3-prime portion of the coding sequence was identical to that of the full-length transcript. The alternative transcript thus encodes a protein that lacks the first 50 N-terminal amino acids of its full-length counterpart, but includes the entire C-terminal RABGAP domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> mapped the RAB3GAP1 gene to chromosome 2q21.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" 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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Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>) is characterized by ocular and neurodevelopmental defects and hypothalamic hypogenitalism. <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified inactivating mutations in the RAB3GAP1 gene (e.g., <a href="#0001">602536.0001</a>) in 5 consanguineous kindreds with Warburg Micro syndrome linked to chromosome 2q21.3, but not in 3 unlinked kindreds. Investigation of an additional 10 families identified germline inactivating mutations in 7 families. The findings indicated that RAB3GAP1 is essential for normal eye and brain development. <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> suggested that microgenitalia may result from hypothalamic hypogonadotropism, and the ocular developmental defects and neurodevelopmental abnormalities may be linked to abnormal neurotransmitter vesicular transport and exocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" 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 7 patients with Warburg Micro syndrome-1 from 5 families with Turkish, Palestinian, Danish, and Guatemalan backgrounds, <a href="#9" class="mim-tip-reference" title="Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Muller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M.-A., Kraus, U., Degen, I., Faes, F. <strong>New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</strong> Europ. J. Hum. Genet. 18: 1100-1106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20512159[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512159">Morris-Rosendahl et al. (2010)</a> identified homozygosity for 5 different truncating RAB3GAP1 mutations, respectively (see, e.g., <a href="#0006">602536.0006</a> and <a href="#0007">602536.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20512159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> screened the RAB3GAP1, RAB3GAP2 (<a href="/entry/609275">609275</a>), and RAB18 (<a href="/entry/602207">602207</a>) genes in patients diagnosed with WARBM or Martsolf syndrome (see <a href="/entry/212720">212720</a>) and identified homozygosity or compound heterozygosity for mutations in RAB3GAP1 in patients with WARBM from 42 families (see, e.g., <a href="#0003">602536.0003</a>; <a href="#0008">602536.0008</a>-<a href="#0011">602536.0011</a>; <a href="#0015">602536.0015</a>). <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> noted that 2 of the variants were missense mutations: homozygosity for T18P (<a href="#0010">602536.0010</a>) was identified in affected children from 5 unrelated families of various ethnic origins, and homozygosity for E24V (<a href="#0011">602536.0011</a>) in an Egyptian family. Both missense mutations occurred at highly conserved residues and segregated with disease in each of the families; these mutations were not found in 270 control chromosomes, and the affected children all had typical eye, brain, and genital findings that were consistent with a diagnosis of WARBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="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> sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM (27 patients) or Martsolf syndrome (7 patients) and identified homozygosity or compound heterozygosity for mutations in RAB3GAP1 in 22 patients with WARBM1 from 17 families. Nine of the mutations were novel, all of which were absent from the dbSNP, 1000 Genomes Project, and gnomAD databases. All but one of the mutations were frameshift, nonsense, or splice site mutations; the exception was a homozygous deletion of all exons of the gene (<a href="#0012">602536.0012</a>) in patient 18. <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><p>In 2 sibs, born to consanguineous parents (family 2), with WARBM1, <a href="#7" class="mim-tip-reference" title="Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M. <strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong> Am. J. Med. Genet. 179A: 579-587, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30730599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30730599</a>] [<a href="https://doi.org/10.1002/ajmg.a.61065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30730599">Koparir et al. (2019)</a> identified homozygosity for an insertion/deletion mutation (<a href="#0015">602536.0015</a>) in the RAB3GAP1 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30730599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Martsolf Syndrome 2</em></strong></p><p>
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In 2 sibs with Martsolf syndrome-2 (MARTS2; <a href="/entry/619420">619420</a>), born to consanguineous Egyptian parents (family K7), <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified a homozygous frameshift mutation in the RAB3GAP1 gene (<a href="#0013">602536.0013</a>). Studies in cDNA from one of the sibs showed increased expression of a region that contains an overlap between the full-length RAB3GAP1 transcript and an alternative RAB3GAP1 transcript. <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> hypothesized that increased expression of the alternative transcript may have a compensatory effect on the loss of full-length protein, thus leading to Martsolf syndrome rather than the more severe Warburg Micro syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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 a patient with Martsolf syndrome-2, who was born to consanguineous Turkish parents (family 1), <a href="#7" class="mim-tip-reference" title="Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M. <strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong> Am. J. Med. Genet. 179A: 579-587, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30730599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30730599</a>] [<a href="https://doi.org/10.1002/ajmg.a.61065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30730599">Koparir et al. (2019)</a> identified a homozygous splice site mutation in the RAB3GAP1 gene (<a href="#0014">602536.0014</a>). The mutation was shown to result in reduced RAB3GAP1 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30730599" 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="#11" class="mim-tip-reference" title="Sakane, A., Manabe, S., Ishizaki, H., Tanaka-Okamoto, M., Kiyokage, E., Toida, K., Yoshida, T., Miyoshi, J., Kamiya, H., Takai, Y., Sasaki, T. <strong>Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.</strong> Proc. Nat. Acad. Sci. 103: 10029-10034, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782817[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/10.1073/pnas.0600304103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782817">Sakane et al. (2006)</a> found that p130-deficient mice were viable and fertile. Unlike Micro syndrome patients, they showed no ocular and neurodevelopmental defects, and the layered structure of the cerebral cortex and the hippocampus was no different from wildtype brains. In the hippocampal CA1 and CA3 regions, Rab3a colocalized with synapsin I (SYN1; <a href="/entry/313440">313440</a>) at presynaptic terminals in both p130-deficient mice and wildtype mice. Expression of p150 was severely attenuated in p150-deficient mice, presumably due to its destabilization in the absence of p130. Functionally, loss of p130 resulted in inhibition of Ca(2+)-dependent glutamate release from cerebrocortical synaptosomes and altered short-term plasticity in the hippocampal CA1 region. <a href="#11" class="mim-tip-reference" title="Sakane, A., Manabe, S., Ishizaki, H., Tanaka-Okamoto, M., Kiyokage, E., Toida, K., Yoshida, T., Miyoshi, J., Kamiya, H., Takai, Y., Sasaki, T. <strong>Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.</strong> Proc. Nat. Acad. Sci. 103: 10029-10034, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782817[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/10.1073/pnas.0600304103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782817">Sakane et al. (2006)</a> concluded that RAB3GAP regulates synaptic transmission and plasticity by limiting the amount of GTP-bound RAB3A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602536[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs730882182 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882182;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs730882182?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730882182" 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=rs730882182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 2 Pakistani kindreds segregating Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified a homozygous 1-bp deletion of C at nucleotide 2801 in the last exon of the RAB3GAP1 gene. The mutation resulted in a frameshift that added 38 amino acids to the C terminus of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" 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="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified a homozygous acceptor splice site mutation in intron 7 of the RAB3GAP1 gene, an A-to-G transition at position -2, in affected individuals of 3 apparently unrelated kindreds segregating Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), including the family in which Warburg Micro syndrome was first described (<a href="#13" class="mim-tip-reference" title="Warburg, M., Sjo, O., Fledelius, H. C., Pedersen, S. A. <strong>Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome.</strong> Am. J. Dis. Child. 147: 1309-1312, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8249951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8249951</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160360051017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8249951">Warburg et al., 1993</a>). All 3 of these families (K5, K9, and K10) were of Pakistani origin, and genotyping at 5 closely linked microsatellite markers was consistent with a common haplotype, suggestive of a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15696165+8249951" 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">rs587776651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776651;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=rs587776651" 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=rs587776651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a Turkish family segregating Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified a homozygous donor splice site mutation in intron 8 of the RAB3GAP1 gene, a G-to-A transition at position +1. The mutation resulted in skipping of exon 8 and, consequently, a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" 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="#14" class="mim-tip-reference" title="Yuksel, A., Yesil, G., Aras, C., Seven, M. <strong>Warburg Micro syndrome in a Turkish boy.</strong> Clin. Dysmorph. 16: 89-93, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351351</a>] [<a href="https://doi.org/10.1097/MCD.0b013e328054c404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17351351">Yuksel et al. (2007)</a> identified homozygosity for the same mutation (748+1G-A) in a 4-year-old Turkish boy with Warburg Micro syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351351" 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 affected individuals from 5 unrelated Turkish families segregating WARBM, <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for the c.748+1G-A splice site mutation in the RAB3GAP1 gene. Haplotype analysis confirmed that this is a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853052;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137853052?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853052" 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=rs137853052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Lebanese family with a phenotype resembling that of Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), previously reported by <a href="#8" class="mim-tip-reference" title="Megarbane, A., Choueiri, R., Bleik, J., Mezzina, M., Caillaud, C. <strong>Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with Micro syndrome or a new syndrome?</strong> J. Med. Genet. 36: 637-640, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465117</a>]" pmid="10465117">Megarbane et al. (1999)</a>, <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified homozygosity for a 2011C-T transition in exon 18 of the RAB3GAP1 gene, resulting in an arg671-to-ter (R671X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15696165+10465117" 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 a 2-year-old Egyptian boy with features consistent with Micro syndrome, <a href="#2" class="mim-tip-reference" title="Abdel-Salam, G. M. H., Hassan, N. A., Kayed, H. F., Aligianis, I. A. <strong>Phenotypic variability in Micro syndrome: report of new cases.</strong> Genet. Counsel. 18: 423-435, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18286824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18286824</a>]" pmid="18286824">Abdel-Salam et al. (2007)</a> identified homozygosity for the R671X mutation in the RAB3GAP1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18286824" 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">rs137853053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853053;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=rs137853053" 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=rs137853053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Mexican family segregating Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), previously reported by <a href="#5" class="mim-tip-reference" title="Graham, J. M., Jr., Hennekam, R., Dobyns, W. B., Roeder, E., Busch, D. <strong>MICRO syndrome: an entity distinct from COFS syndrome.</strong> Am. J. Med. Genet. 128A: 235-245, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216543</a>] [<a href="https://doi.org/10.1002/ajmg.a.30060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216543">Graham et al. (2004)</a>, <a href="#3" class="mim-tip-reference" title="Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others. <strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong> Nature Genet. 37: 221-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>] [<a href="https://doi.org/10.1038/ng1517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696165">Aligianis et al. (2005)</a> identified homozygosity for a 1734G-A transition in exon 17 of the RAB3GAP1 gene, resulting in a trp578-to-ter (W578X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15696165+15216543" 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 female infant with Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), born of nonconsanguineous Danish parents, <a href="#9" class="mim-tip-reference" title="Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Muller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M.-A., Kraus, U., Degen, I., Faes, F. <strong>New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</strong> Europ. J. Hum. Genet. 18: 1100-1106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20512159[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512159">Morris-Rosendahl et al. (2010)</a> identified homozygosity for a 1410C-A transversion in exon 15 of the RAB3GAP1 gene, predicted to result in a tyr470-to-ter (Y470X) substitution. The unaffected parents were heterozygous for the mutation. Analysis of 9 polymorphic markers flanking the RAB3GAP1 gene revealed a homozygous haplotype in the patient that was shared by her unrelated heterozygous parents, suggesting a possible founder effect for the mutation in the Danish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20512159" 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">rs730882184 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882184;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=rs730882184" 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=rs730882184" 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=RCV000007478" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007478" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007478</a>
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<p>In a brother and sister with Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), born of distantly related Guatemalan parents, <a href="#9" class="mim-tip-reference" title="Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Muller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M.-A., Kraus, U., Degen, I., Faes, F. <strong>New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</strong> Europ. J. Hum. Genet. 18: 1100-1106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20512159[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512159">Morris-Rosendahl et al. (2010)</a> identified homozygosity for a 7-bp deletion/6-bp insertion (264delAAAGGATinsTTATTA) in exon 4 of the RAB3GAP1 gene, resulting in a frameshift and premature stop at codon 90. The unaffected parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20512159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777152 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777152;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777152?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777152" 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=rs587777152" 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=RCV000087133 OR RCV000520187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087133, RCV000520187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087133...</a>
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<p>In a Czech boy with microcephaly, microphthalmia, cataract, mental retardation, progressive spastic diplegia, and hypogenitalism (WARBM1; <a href="/entry/600118">600118</a>), who was originally described by <a href="#12" class="mim-tip-reference" title="Seemanova, E., Lesny, I. <strong>X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.</strong> Am. J. Med. Genet. 66: 179-183, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958326</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<179::AID-AJMG10>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8958326">Seemanova and Lesny (1996)</a>, <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified compound heterozygosity for a splice site transition in intron 10 (c.899+1G-A) of the RAB3GAP1 gene, and a 19-bp insertion in exon 18 (c.2055_2056insGCTCTCAGATATGGAGTCT; <a href="#0009">602536.0009</a>), causing a frameshift predicted to result in a premature termination codon (Phe686AlafsTer20). The proband's mother, a maternal aunt, and maternal grandmother were heterozygous for the splicing mutation, whereas his father was heterozygous for the frameshift mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23420520+8958326" 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">rs587777153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777153;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=rs587777153" 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=rs587777153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 19-bp insertion in the RAB3GAP1 gene (c.2055_2056insGCTCTCAGATATGGAGTCT) that was found in compound heterozygous state in a patient with Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>) by <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a>, see <a href="#0008">602536.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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">rs587777154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777154;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=rs587777154" 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=rs587777154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In children from 5 unrelated families of various ethnic origins, including Turkish, Pakistani, and Moroccan, who had Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.52A-C transversion in exon 2 of the RAB3GAP1 gene, resulting in a thr18-to-pro (T18P) substitution at a highly conserved residue. The mutation segregated with disease in each of the families and was not found in 270 control chromosomes. The affected children all had typical eye, brain, and genital findings consistent with a diagnosis of WARBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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">rs587777155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777155;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=rs587777155" 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=rs587777155" 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=RCV000087136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087136</a>
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<p>In 2 affected children from an Egyptian family segregating Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified homozygosity for a c.71A-T transversion in exon 2 of the RAB3GAP1 gene, resulting in a glu24-to-val (E24V) substitution at a highly conserved residue. The mutation segregated with disease in the family and was not found in 270 control chromosomes. Both children had typical eye, brain, and genital findings consistent with a diagnosis of WARBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001507286" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001507286" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001507286</a>
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<p>In an 11-year-old boy (patient 18, family 14), born to consanguineous Egyptian parents, with Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <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 a whole-gene deletion in the RAB3GAP1 gene. The mutation was identified after repeated failure of RAB3GAP1 to amplify on PCR, and was confirmed by copy number analysis using qPCR. The patient's parents had 50% reduction of RAB3GAP1 on qPCR. <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">rs1553437083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553437083;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=rs1553437083" 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=rs1553437083" 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=RCV000656358 OR RCV001532875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656358, RCV001532875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656358...</a>
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<p>In 2 sibs, born to consanguineous Egyptian parents (family K7), with Martsolf syndrome-2 (MARTS2; <a href="/entry/619420">619420</a>), <a href="#6" class="mim-tip-reference" title="Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. <strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong> Hum. Mutat. 34: 686-696, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>] [<a href="https://doi.org/10.1002/humu.22296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420520">Handley et al. (2013)</a> identified a homozygous 1-bp deletion (c.9delC, NM_012233.2) in exon 1 of the RAB3GAP1 gene, predicted to result in a frameshift and premature termination (Asp4ThrfsTer51). The mutation segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" 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">rs2105001159 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2105001159;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=rs2105001159" 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=rs2105001159" 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=RCV001532876 OR RCV003718413" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001532876, RCV003718413" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001532876...</a>
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<p>In a 14-year-old girl with Martsolf syndrome-2 (MARTS2; <a href="/entry/619420">619420</a>), who was born to consanguineous Turkish parents (family 1), <a href="#7" class="mim-tip-reference" title="Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M. <strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong> Am. J. Med. Genet. 179A: 579-587, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30730599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30730599</a>] [<a href="https://doi.org/10.1002/ajmg.a.61065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30730599">Koparir et al. (2019)</a> identified a homozygous G-to-C transversion at the -1 position of intron 22 (c.2607-1G-C, NM_001172435) of the RAB3GAP1 gene, which resulted in the skipping of exon 23. The mutation, which was identified by homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the 1000 Genomes Project or Exome Variant Server databases or in an in-house exome database. Studies in cDNA from patient blood cells showed that the mutation resulted in reduced RAB3GAP1 expression compared to a control sample. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30730599" 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">rs2104983369 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2104983369;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=rs2104983369" 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=rs2104983369" 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=RCV001532877" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001532877" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001532877</a>
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<p>In 2 sibs, born to consanguineous parents (family 2), with Warburg Micro syndrome-1 (WARBM1; <a href="/entry/600118">600118</a>), <a href="#7" class="mim-tip-reference" title="Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M. <strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong> Am. J. Med. Genet. 179A: 579-587, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30730599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30730599</a>] [<a href="https://doi.org/10.1002/ajmg.a.61065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30730599">Koparir et al. (2019)</a> identified homozygosity for an insertion/deletion mutation (c.2187_2188delinsCT, NM_001172435.1) in exon 19 of the RAB3GAP1 gene, resulting in a frameshift and premature termination (Met729_Lys730delinsIleTer). The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the 1000 Genomes Project or Exome Variant Server databases or in an in-house exome database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30730599" 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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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: <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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[<a href="https://doi.org/10.1111/cge.13825" target="_blank">Full Text</a>]
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Abdel-Salam, G. M. H., Hassan, N. A., Kayed, H. F., Aligianis, I. A.
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<strong>Phenotypic variability in Micro syndrome: report of new cases.</strong>
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Genet. Counsel. 18: 423-435, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18286824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18286824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18286824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others.
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<strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong>
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Nature Genet. 37: 221-223, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696165</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1517" target="_blank">Full Text</a>]
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Fukui, K., Sasaki, T., Imazumi, K., Matsuura, Y., Nakanishi, H., Takai, Y.
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<strong>Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.</strong>
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J. Biol. Chem. 272: 4655-4658, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9030515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9030515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9030515" 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.272.8.4655" target="_blank">Full Text</a>]
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<a id="Graham2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Graham, J. M., Jr., Hennekam, R., Dobyns, W. B., Roeder, E., Busch, D.
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<strong>MICRO syndrome: an entity distinct from COFS syndrome.</strong>
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Am. J. Med. Genet. 128A: 235-245, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15216543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30060" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Handley2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others.
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<strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong>
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Hum. Mutat. 34: 686-696, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22296" target="_blank">Full Text</a>]
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<a id="Koparir2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M.
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<strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong>
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Am. J. Med. Genet. 179A: 579-587, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30730599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30730599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30730599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61065" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Megarbane1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Megarbane, A., Choueiri, R., Bleik, J., Mezzina, M., Caillaud, C.
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<strong>Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with Micro syndrome or a new syndrome?</strong>
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J. Med. Genet. 36: 637-640, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Morris-Rosendahl2010" class="mim-anchor"></a>
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<div class="">
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Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Muller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M.-A., Kraus, U., Degen, I., Faes, F.
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<strong>New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</strong>
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Europ. J. Hum. Genet. 18: 1100-1106, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20512159[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=20512159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.79" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Nagano1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y.
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<strong>Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.</strong>
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J. Biol. Chem. 273: 24781-24785, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733780" 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.273.38.24781" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Sakane2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakane, A., Manabe, S., Ishizaki, H., Tanaka-Okamoto, M., Kiyokage, E., Toida, K., Yoshida, T., Miyoshi, J., Kamiya, H., Takai, Y., Sasaki, T.
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<strong>Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.</strong>
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Proc. Nat. Acad. Sci. 103: 10029-10034, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782817</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782817[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=16782817" 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/10.1073/pnas.0600304103" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Seemanova1996" class="mim-anchor"></a>
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<div class="">
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Seemanova, E., Lesny, I.
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<strong>X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.</strong>
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Am. J. Med. Genet. 66: 179-183, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8958326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<179::AID-AJMG10>3.0.CO;2-Q" target="_blank">Full Text</a>]
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Warburg, M., Sjo, O., Fledelius, H. C., Pedersen, S. A.
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<strong>Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome.</strong>
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Am. J. Dis. Child. 147: 1309-1312, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8249951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8249951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8249951" 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/10.1001/archpedi.1993.02160360051017" target="_blank">Full Text</a>]
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Yuksel, A., Yesil, G., Aras, C., Seven, M.
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<strong>Warburg Micro syndrome in a Turkish boy.</strong>
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Clin. Dysmorph. 16: 89-93, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351351" 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/10.1097/MCD.0b013e328054c404" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/07/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/07/2021<br>Marla J. F. O'Neill - updated : 11/9/2010<br>Nara Sobreira - updated : 6/4/2009<br>Marla J. F. O'Neill - updated : 3/18/2008<br>Patricia A. Hartz - updated : 8/16/2006<br>Marla J. F. O'Neill - updated : 5/9/2006<br>Patricia A. Hartz - updated : 3/25/2005<br>Victor A. McKusick - updated : 3/9/2005
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Creation Date:
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<span class="mim-text-font">
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Jennifer P. Macke : 4/20/1998
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carol : 07/08/2021
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carol : 07/07/2021<br>carol : 06/07/2021<br>carol : 03/04/2015<br>mcolton : 3/3/2015<br>alopez : 3/4/2014<br>alopez : 2/24/2014<br>mcolton : 2/21/2014<br>carol : 9/12/2011<br>wwang : 11/17/2010<br>terry : 11/9/2010<br>carol : 6/4/2009<br>terry : 6/4/2009<br>wwang : 3/19/2008<br>terry : 3/18/2008<br>mgross : 8/25/2006<br>terry : 8/16/2006<br>carol : 5/9/2006<br>terry : 5/9/2006<br>alopez : 3/17/2006<br>mgross : 3/25/2005<br>mgross : 3/11/2005<br>terry : 3/9/2005<br>alopez : 6/3/1999<br>dholmes : 5/12/1998
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<strong>*</strong> 602536
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<h3>
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RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1
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<em>Alternative titles; symbols</em>
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RAB3GAP<br />
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RAB3GAP, 130-KD SUBUNIT<br />
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RAB3GAP, CATALYTIC SUBUNIT<br />
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p130<br />
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WARBM1 GENE<br />
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KIAA0066
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RAB3GAP1</em></strong>
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<strong>
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|
<em>
|
|
Cytogenetic location: 2q21.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:135,052,292-135,176,396 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
2q21.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Martsolf syndrome 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619420
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Warburg micro syndrome 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600118
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Members of the RAB3 protein family (see RAB3A; 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Fukui et al. (1997) isolated a protein from rat brain that showed GAP activity for Rab3a. They used peptide sequences from this Rab3gap to clone a corresponding cDNA from a human brain library. The human RAB3GAP cDNA encodes a 981-amino acid polypeptide. Northern blot analysis showed that RAB3GAP was ubiquitously expressed in human tissues as a 4.5-kb mRNA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By coimmunoprecipitation of rat brain synaptic soluble fractions, Nagano et al. (1998) found a strong direct interaction between a 150-kD protein (p150) and a 130-kD protein (p130) that showed GAP activity toward Rab3 family members. p150 did not show GAP activity, and the interaction between p150 and p130 did not alter the activity of p130 or the subcellular distribution of the 2 proteins. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Aligianis et al. (2005) determined that the RAB3GAP1 gene contains 24 exons. </p><p>Handley et al. (2013) identified an alternative transcript of RAB3GAP1, ENST00000539493, with an alternative first coding exon. After cloning from human cDNA, sequencing confirmed that the cloned transcript contained the alternative first coding exon, but the 3-prime portion of the coding sequence was identical to that of the full-length transcript. The alternative transcript thus encodes a protein that lacks the first 50 N-terminal amino acids of its full-length counterpart, but includes the entire C-terminal RABGAP domain. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Aligianis et al. (2005) mapped the RAB3GAP1 gene to chromosome 2q21.3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Warburg Micro Syndrome 1</em></strong></p><p>
|
|
Warburg Micro syndrome-1 (WARBM1; 600118) is characterized by ocular and neurodevelopmental defects and hypothalamic hypogenitalism. Aligianis et al. (2005) identified inactivating mutations in the RAB3GAP1 gene (e.g., 602536.0001) in 5 consanguineous kindreds with Warburg Micro syndrome linked to chromosome 2q21.3, but not in 3 unlinked kindreds. Investigation of an additional 10 families identified germline inactivating mutations in 7 families. The findings indicated that RAB3GAP1 is essential for normal eye and brain development. Aligianis et al. (2005) suggested that microgenitalia may result from hypothalamic hypogonadotropism, and the ocular developmental defects and neurodevelopmental abnormalities may be linked to abnormal neurotransmitter vesicular transport and exocytosis. </p><p>In 7 patients with Warburg Micro syndrome-1 from 5 families with Turkish, Palestinian, Danish, and Guatemalan backgrounds, Morris-Rosendahl et al. (2010) identified homozygosity for 5 different truncating RAB3GAP1 mutations, respectively (see, e.g., 602536.0006 and 602536.0007). </p><p>Handley et al. (2013) screened the RAB3GAP1, RAB3GAP2 (609275), and RAB18 (602207) genes in patients diagnosed with WARBM or Martsolf syndrome (see 212720) and identified homozygosity or compound heterozygosity for mutations in RAB3GAP1 in patients with WARBM from 42 families (see, e.g., 602536.0003; 602536.0008-602536.0011; 602536.0015). Handley et al. (2013) noted that 2 of the variants were missense mutations: homozygosity for T18P (602536.0010) was identified in affected children from 5 unrelated families of various ethnic origins, and homozygosity for E24V (602536.0011) in an Egyptian family. Both missense mutations occurred at highly conserved residues and segregated with disease in each of the families; these mutations were not found in 270 control chromosomes, and the affected children all had typical eye, brain, and genital findings that were consistent with a diagnosis of WARBM. </p><p>Abdel-Hamid et al. (2020) sequenced the RAB3GAP1 and RAB3GAP2 genes in 34 patients from Egypt diagnosed with WARBM (27 patients) or Martsolf syndrome (7 patients) and identified homozygosity or compound heterozygosity for mutations in RAB3GAP1 in 22 patients with WARBM1 from 17 families. Nine of the mutations were novel, all of which were absent from the dbSNP, 1000 Genomes Project, and gnomAD databases. All but one of the mutations were frameshift, nonsense, or splice site mutations; the exception was a homozygous deletion of all exons of the gene (602536.0012) in patient 18. </p><p>In 2 sibs, born to consanguineous parents (family 2), with WARBM1, Koparir et al. (2019) identified homozygosity for an insertion/deletion mutation (602536.0015) in the RAB3GAP1 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p><p><strong><em>Martsolf Syndrome 2</em></strong></p><p>
|
|
In 2 sibs with Martsolf syndrome-2 (MARTS2; 619420), born to consanguineous Egyptian parents (family K7), Handley et al. (2013) identified a homozygous frameshift mutation in the RAB3GAP1 gene (602536.0013). Studies in cDNA from one of the sibs showed increased expression of a region that contains an overlap between the full-length RAB3GAP1 transcript and an alternative RAB3GAP1 transcript. Handley et al. (2013) hypothesized that increased expression of the alternative transcript may have a compensatory effect on the loss of full-length protein, thus leading to Martsolf syndrome rather than the more severe Warburg Micro syndrome. </p><p>In a patient with Martsolf syndrome-2, who was born to consanguineous Turkish parents (family 1), Koparir et al. (2019) identified a homozygous splice site mutation in the RAB3GAP1 gene (602536.0014). The mutation was shown to result in reduced RAB3GAP1 expression. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sakane et al. (2006) found that p130-deficient mice were viable and fertile. Unlike Micro syndrome patients, they showed no ocular and neurodevelopmental defects, and the layered structure of the cerebral cortex and the hippocampus was no different from wildtype brains. In the hippocampal CA1 and CA3 regions, Rab3a colocalized with synapsin I (SYN1; 313440) at presynaptic terminals in both p130-deficient mice and wildtype mice. Expression of p150 was severely attenuated in p150-deficient mice, presumably due to its destabilization in the absence of p130. Functionally, loss of p130 resulted in inhibition of Ca(2+)-dependent glutamate release from cerebrocortical synaptosomes and altered short-term plasticity in the hippocampal CA1 region. Sakane et al. (2006) concluded that RAB3GAP regulates synaptic transmission and plasticity by limiting the amount of GTP-bound RAB3A. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>15 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, 1-BP DEL, 2801C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882182,
|
|
|
|
|
|
gnomAD: rs730882182,
|
|
|
|
|
|
ClinVar: RCV000007472
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 Pakistani kindreds segregating Warburg Micro syndrome-1 (WARBM1; 600118), Aligianis et al. (2005) identified a homozygous 1-bp deletion of C at nucleotide 2801 in the last exon of the RAB3GAP1 gene. The mutation resulted in a frameshift that added 38 amino acids to the C terminus of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, IVS7AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882183,
|
|
|
|
|
|
|
|
ClinVar: RCV000007473
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Aligianis et al. (2005) identified a homozygous acceptor splice site mutation in intron 7 of the RAB3GAP1 gene, an A-to-G transition at position -2, in affected individuals of 3 apparently unrelated kindreds segregating Warburg Micro syndrome-1 (WARBM1; 600118), including the family in which Warburg Micro syndrome was first described (Warburg et al., 1993). All 3 of these families (K5, K9, and K10) were of Pakistani origin, and genotyping at 5 closely linked microsatellite markers was consistent with a common haplotype, suggestive of a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, IVS8DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776651,
|
|
|
|
|
|
|
|
ClinVar: RCV000007474, RCV000578621, RCV002512875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Turkish family segregating Warburg Micro syndrome-1 (WARBM1; 600118), Aligianis et al. (2005) identified a homozygous donor splice site mutation in intron 8 of the RAB3GAP1 gene, a G-to-A transition at position +1. The mutation resulted in skipping of exon 8 and, consequently, a frameshift. </p><p>Yuksel et al. (2007) identified homozygosity for the same mutation (748+1G-A) in a 4-year-old Turkish boy with Warburg Micro syndrome. </p><p>In affected individuals from 5 unrelated Turkish families segregating WARBM, Handley et al. (2013) identified homozygosity for the c.748+1G-A splice site mutation in the RAB3GAP1 gene. Haplotype analysis confirmed that this is a founder mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, ARG671TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137853052,
|
|
|
|
|
|
gnomAD: rs137853052,
|
|
|
|
|
|
ClinVar: RCV000007475
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Lebanese family with a phenotype resembling that of Warburg Micro syndrome-1 (WARBM1; 600118), previously reported by Megarbane et al. (1999), Aligianis et al. (2005) identified homozygosity for a 2011C-T transition in exon 18 of the RAB3GAP1 gene, resulting in an arg671-to-ter (R671X) substitution. </p><p>In a 2-year-old Egyptian boy with features consistent with Micro syndrome, Abdel-Salam et al. (2007) identified homozygosity for the R671X mutation in the RAB3GAP1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, TRP578TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137853053,
|
|
|
|
|
|
|
|
ClinVar: RCV000007476
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Mexican family segregating Warburg Micro syndrome-1 (WARBM1; 600118), previously reported by Graham et al. (2004), Aligianis et al. (2005) identified homozygosity for a 1734G-A transition in exon 17 of the RAB3GAP1 gene, resulting in a trp578-to-ter (W578X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, TYR470TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606996,
|
|
|
|
|
|
|
|
ClinVar: RCV000007477
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with Warburg Micro syndrome-1 (WARBM1; 600118), born of nonconsanguineous Danish parents, Morris-Rosendahl et al. (2010) identified homozygosity for a 1410C-A transversion in exon 15 of the RAB3GAP1 gene, predicted to result in a tyr470-to-ter (Y470X) substitution. The unaffected parents were heterozygous for the mutation. Analysis of 9 polymorphic markers flanking the RAB3GAP1 gene revealed a homozygous haplotype in the patient that was shared by her unrelated heterozygous parents, suggesting a possible founder effect for the mutation in the Danish population. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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RAB3GAP1, 7-BP DEL/6-BP INS, NT264
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<br />
|
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|
|
SNP: rs730882184,
|
|
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|
|
|
|
|
ClinVar: RCV000007478
|
|
|
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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 brother and sister with Warburg Micro syndrome-1 (WARBM1; 600118), born of distantly related Guatemalan parents, Morris-Rosendahl et al. (2010) identified homozygosity for a 7-bp deletion/6-bp insertion (264delAAAGGATinsTTATTA) in exon 4 of the RAB3GAP1 gene, resulting in a frameshift and premature stop at codon 90. The unaffected parents were heterozygous for the mutation. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RAB3GAP1, IVS10, G-A, +1
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<br />
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|
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SNP: rs587777152,
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|
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gnomAD: rs587777152,
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ClinVar: RCV000087133, RCV000520187
|
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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 Czech boy with microcephaly, microphthalmia, cataract, mental retardation, progressive spastic diplegia, and hypogenitalism (WARBM1; 600118), who was originally described by Seemanova and Lesny (1996), Handley et al. (2013) identified compound heterozygosity for a splice site transition in intron 10 (c.899+1G-A) of the RAB3GAP1 gene, and a 19-bp insertion in exon 18 (c.2055_2056insGCTCTCAGATATGGAGTCT; 602536.0009), causing a frameshift predicted to result in a premature termination codon (Phe686AlafsTer20). The proband's mother, a maternal aunt, and maternal grandmother were heterozygous for the splicing mutation, whereas his father was heterozygous for the frameshift mutation. </p>
|
|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RAB3GAP1, 19-BP INS, NT2055
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<br />
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SNP: rs587777153,
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|
|
ClinVar: RCV000087134
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 19-bp insertion in the RAB3GAP1 gene (c.2055_2056insGCTCTCAGATATGGAGTCT) that was found in compound heterozygous state in a patient with Warburg Micro syndrome-1 (WARBM1; 600118) by Handley et al. (2013), see 602536.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RAB3GAP1, THR18PRO
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|
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<br />
|
|
|
|
SNP: rs587777154,
|
|
|
|
|
|
|
|
ClinVar: RCV000087135
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In children from 5 unrelated families of various ethnic origins, including Turkish, Pakistani, and Moroccan, who had Warburg Micro syndrome-1 (WARBM1; 600118), Handley et al. (2013) identified homozygosity for a c.52A-C transversion in exon 2 of the RAB3GAP1 gene, resulting in a thr18-to-pro (T18P) substitution at a highly conserved residue. The mutation segregated with disease in each of the families and was not found in 270 control chromosomes. The affected children all had typical eye, brain, and genital findings consistent with a diagnosis of WARBM. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, GLU24VAL
|
|
|
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|
|
<br />
|
|
|
|
SNP: rs587777155,
|
|
|
|
|
|
|
|
ClinVar: RCV000087136
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected children from an Egyptian family segregating Warburg Micro syndrome-1 (WARBM1; 600118), Handley et al. (2013) identified homozygosity for a c.71A-T transversion in exon 2 of the RAB3GAP1 gene, resulting in a glu24-to-val (E24V) substitution at a highly conserved residue. The mutation segregated with disease in the family and was not found in 270 control chromosomes. Both children had typical eye, brain, and genital findings consistent with a diagnosis of WARBM. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, EX1-25DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001507286
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old boy (patient 18, family 14), born to consanguineous Egyptian parents, with Warburg Micro syndrome-1 (WARBM1; 600118), Abdel-Hamid et al. (2020) identified homozygosity for a whole-gene deletion in the RAB3GAP1 gene. The mutation was identified after repeated failure of RAB3GAP1 to amplify on PCR, and was confirmed by copy number analysis using qPCR. The patient's parents had 50% reduction of RAB3GAP1 on qPCR. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MARTSOLF SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, 1-BP DEL, 9C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553437083,
|
|
|
|
|
|
|
|
ClinVar: RCV000656358, RCV001532875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born to consanguineous Egyptian parents (family K7), with Martsolf syndrome-2 (MARTS2; 619420), Handley et al. (2013) identified a homozygous 1-bp deletion (c.9delC, NM_012233.2) in exon 1 of the RAB3GAP1 gene, predicted to result in a frameshift and premature termination (Asp4ThrfsTer51). The mutation segregated with the disorder in the family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 MARTSOLF SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, IVS22AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2105001159,
|
|
|
|
|
|
|
|
ClinVar: RCV001532876, RCV003718413
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old girl with Martsolf syndrome-2 (MARTS2; 619420), who was born to consanguineous Turkish parents (family 1), Koparir et al. (2019) identified a homozygous G-to-C transversion at the -1 position of intron 22 (c.2607-1G-C, NM_001172435) of the RAB3GAP1 gene, which resulted in the skipping of exon 23. The mutation, which was identified by homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the 1000 Genomes Project or Exome Variant Server databases or in an in-house exome database. Studies in cDNA from patient blood cells showed that the mutation resulted in reduced RAB3GAP1 expression compared to a control sample. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 WARBURG MICRO SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB3GAP1, INS/DEL, NT2187
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2104983369,
|
|
|
|
|
|
|
|
ClinVar: RCV001532877
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born to consanguineous parents (family 2), with Warburg Micro syndrome-1 (WARBM1; 600118), Koparir et al. (2019) identified homozygosity for an insertion/deletion mutation (c.2187_2188delinsCT, NM_001172435.1) in exon 19 of the RAB3GAP1 gene, resulting in a frameshift and premature termination (Met729_Lys730delinsIleTer). The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the 1000 Genomes Project or Exome Variant Server databases or in an in-house exome database. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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.
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|
[PubMed: 32740904]
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[Full Text: https://doi.org/10.1111/cge.13825]
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|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Abdel-Salam, G. M. H., Hassan, N. A., Kayed, H. F., Aligianis, I. A.
|
|
<strong>Phenotypic variability in Micro syndrome: report of new cases.</strong>
|
|
Genet. Counsel. 18: 423-435, 2007.
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|
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[PubMed: 18286824]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Aligianis, I. A., Johnson, C. A., Gissen, P., Chen, D., Hampshire, D., Hoffmann, K., Maina, E. N., Morgan, N. V., Tee, L., Morton, J., Ainsworth, J. R., Horn, D., and 20 others.
|
|
<strong>Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.</strong>
|
|
Nature Genet. 37: 221-223, 2005.
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[PubMed: 15696165]
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[Full Text: https://doi.org/10.1038/ng1517]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Fukui, K., Sasaki, T., Imazumi, K., Matsuura, Y., Nakanishi, H., Takai, Y.
|
|
<strong>Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.</strong>
|
|
J. Biol. Chem. 272: 4655-4658, 1997.
|
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|
|
[PubMed: 9030515]
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|
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[Full Text: https://doi.org/10.1074/jbc.272.8.4655]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Graham, J. M., Jr., Hennekam, R., Dobyns, W. B., Roeder, E., Busch, D.
|
|
<strong>MICRO syndrome: an entity distinct from COFS syndrome.</strong>
|
|
Am. J. Med. Genet. 128A: 235-245, 2004.
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|
|
[PubMed: 15216543]
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[Full Text: https://doi.org/10.1002/ajmg.a.30060]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others.
|
|
<strong>Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome.</strong>
|
|
Hum. Mutat. 34: 686-696, 2013.
|
|
|
|
|
|
[PubMed: 23420520]
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|
|
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|
|
[Full Text: https://doi.org/10.1002/humu.22296]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koparir, A., Karatas, O. F., Yilmaz, S. S., Suer, I., Ozer, B., Yuceturk, B., Ozen, M.
|
|
<strong>Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.</strong>
|
|
Am. J. Med. Genet. 179A: 579-587, 2019.
|
|
|
|
|
|
[PubMed: 30730599]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61065]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Megarbane, A., Choueiri, R., Bleik, J., Mezzina, M., Caillaud, C.
|
|
<strong>Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with Micro syndrome or a new syndrome?</strong>
|
|
J. Med. Genet. 36: 637-640, 1999.
|
|
|
|
|
|
[PubMed: 10465117]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Muller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M.-A., Kraus, U., Degen, I., Faes, F.
|
|
<strong>New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</strong>
|
|
Europ. J. Hum. Genet. 18: 1100-1106, 2010.
|
|
|
|
|
|
[PubMed: 20512159]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2010.79]
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Nagano, F., Sasaki, T., Fukui, K., Asakura, T., Imazumi, K., Takai, Y.
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Sakane, A., Manabe, S., Ishizaki, H., Tanaka-Okamoto, M., Kiyokage, E., Toida, K., Yoshida, T., Miyoshi, J., Kamiya, H., Takai, Y., Sasaki, T.
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Seemanova, E., Lesny, I.
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<strong>X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.</strong>
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Warburg, M., Sjo, O., Fledelius, H. C., Pedersen, S. A.
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<strong>Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome.</strong>
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Yuksel, A., Yesil, G., Aras, C., Seven, M.
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<strong>Warburg Micro syndrome in a Turkish boy.</strong>
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Clin. Dysmorph. 16: 89-93, 2007.
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[Full Text: https://doi.org/10.1097/MCD.0b013e328054c404]
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Hilary J. Vernon - updated : 07/07/2021<br>Hilary J. Vernon - updated : 06/07/2021<br>Marla J. F. O'Neill - updated : 11/9/2010<br>Nara Sobreira - updated : 6/4/2009<br>Marla J. F. O'Neill - updated : 3/18/2008<br>Patricia A. Hartz - updated : 8/16/2006<br>Marla J. F. O'Neill - updated : 5/9/2006<br>Patricia A. Hartz - updated : 3/25/2005<br>Victor A. McKusick - updated : 3/9/2005
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