3023 lines
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Entry
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- *602207 - RAS-ASSOCIATED PROTEIN RAB18; RAB18
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- OMIM
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<p>
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<span class="h4">*602207</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602207">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000099246;t=ENST00000356940" 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=22931" 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=602207" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000099246;t=ENST00000356940" 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_001256410,NM_001256411,NM_001256412,NM_021252,NR_046172" 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_021252" 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=602207" 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 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=03731&isoform_id=03731_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/RAB18" 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/7381201,7531023,10880989,12052987,12230528,12239330,15929113,20379076,20809384,32526693,32880023,33150584,49065336,51599149,62088976,62897867,119606460,119606461,193786050,221040784,221041916,221042724,374081854,374081856,374081858" 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/Q9NP72" 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=22931" 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=ENSG00000099246;t=ENST00000356940" 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=RAB18" 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=RAB18" 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+22931" 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/RAB18" 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:22931" 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/22931" 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=chr10&hgg_gene=ENST00000356940.11&hgg_start=27504304&hgg_end=27542239&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:14244" 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/rab18" 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=602207[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=602207[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000099246" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=RAB18" 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=RAB18" 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=RAB18&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/PA34106" 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:14244" 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/FBgn0015794.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:102790" 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/RAB18#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:102790" 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/22931/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=22931" 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=WBGene00004277;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-030131-3980" 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=RAB18&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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602207
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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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RAS-ASSOCIATED PROTEIN RAB18; RAB18
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=RAB18" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RAB18</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/10/122?start=-3&limit=10&highlight=122">10p12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:27504304-27542239&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'})">10:27,504,304-27,542,239</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/10/122?start=-3&limit=10&highlight=122">
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10p12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Warburg micro syndrome 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614222"> 614222 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/602207" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/602207" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Rab proteins comprise a complex family of small GTPases involved in the regulation of intracellular membrane trafficking and reorganization. Rab18 inhibits secretory activity in vertebrate neuroendocrine cells (<a href="#7" class="mim-tip-reference" title="Vazquez-Martinez, R., Cruz-Garcia, D., Duran-Prado, M., Peinado, J. R., Castano, J. P., Malagon, M. M. <strong>Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.</strong> Traffic 8: 867-882, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488286</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2007.00570.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17488286">Vazquez-Martinez et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17488286" 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 stimulating umbilical vein endothelial cells (HUVEC) with histamine and differential display gene expression analysis, <a href="#6" class="mim-tip-reference" title="Schafer, U., Seibold, S., Schneider, A., Neugebauer, E. <strong>Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine.</strong> FEBS Lett. 466: 148-154, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10648831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10648831</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)01778-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10648831">Schafer et al. (2000)</a> isolated a cDNA encoding RAB18. The deduced 206-amino acid protein shares 98%, 92%, and 85% identity with the mouse, snail, and worm sequences, respectively. RAB18 contains totally conserved phosphate/Mg(2+)-binding motifs and guanine-binding motifs as well as somewhat variable organelle-targeting regions. Northern blot analysis detected 2.5- and 1.0-kb transcripts in endothelial cells but not in smooth muscle cells or leukocytes. RT-PCR analysis suggested ubiquitous expression, which HPLC analysis determined to be strongest in heart, kidney, pancreas, lung, and liver, with weak expression in brain, placenta, and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10648831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Schafer, U., Seibold, S., Schneider, A., Neugebauer, E. <strong>Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine.</strong> FEBS Lett. 466: 148-154, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10648831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10648831</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)01778-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10648831">Schafer et al. (2000)</a> reported that stimulation of polarized HUVEC or nonpolarized mononuclear cells with histamine showed a significant time- and dose-dependent increase of RAB18 transcript in both cell types, suggesting a possible role for Rab proteins in inflammation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10648831" 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="#7" class="mim-tip-reference" title="Vazquez-Martinez, R., Cruz-Garcia, D., Duran-Prado, M., Peinado, J. R., Castano, J. P., Malagon, M. M. <strong>Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.</strong> Traffic 8: 867-882, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488286</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2007.00570.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17488286">Vazquez-Martinez et al. (2007)</a> found that Rab18 localized to the cytosol in rat PC12 adrenal chromaffin cells and AtT20 mouse pituitary corticotropes. However, Rab18 associated with a subpopulation of secretory granules after stimulation of the regulated secretory pathway and subsequently relocalized to the cell surface. A dominant-inactive rat Rab18 mutant distributed diffusely in the cytosol, whereas a dominant-active rat Rab18 mutant predominantly associated with secretory granules. Interaction with Rab18 slowed secretory granule movement and inhibited secretory activity of PC12 and AtT20 cells in response to stimulatory challenges. Immunoelectron microscopy of normal frog pituitary melanotropes showed an inverse correlation between Rab18 protein content and secretory activity. <a href="#7" class="mim-tip-reference" title="Vazquez-Martinez, R., Cruz-Garcia, D., Duran-Prado, M., Peinado, J. R., Castano, J. P., Malagon, M. M. <strong>Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.</strong> Traffic 8: 867-882, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488286</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2007.00570.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17488286">Vazquez-Martinez et al. (2007)</a> concluded that RAB18 acts as a negative regulator of secretory activity by impairing secretory granule transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17488286" 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="#5" class="mim-tip-reference" title="McMurtrie, E. B., Barbosa, M. D. F. S., Zerial, M., Kingsmore, S. F. <strong>Rab17 and Rab18, small GTPases with specificity for polarized epithelial cells: genetic mapping in the mouse.</strong> Genomics 45: 623-625, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367688</a>] [<a href="https://doi.org/10.1006/geno.1997.4959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9367688">McMurtrie et al. (1997)</a> mapped the mouse Rab18 gene to chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9367688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 10/28/2009."None>Hartz (2009)</a> mapped the RAB18 gene to chromosome 10p12.1 based on an alignment of the RAB18 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AA216667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AA216667</a>) with the genomic sequence (GRCh37).</p>
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<p>In affected members of 5 large consanguineous families, 4 Pakistani and 1 Turkish, segregating Warburg Micro syndrome (WARBM3; <a href="/entry/614222">614222</a>), <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> identified homozygous loss-of-function mutations in the RAB18 gene (<a href="#0001">602207.0001</a> and <a href="#0002">602207.0002</a>, respectively). Direct sequencing for RAB18 mutations in 58 additional families segregating Warburg Micro syndrome detected compound heterozygous mutations (<a href="#0003">602207.0003</a>-<a href="#0004">602207.0004</a>) in affected sibs of 1 family. <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> performed nucleotide-binding assays and showed that although RAB18 bound GDP and GTP comparably to other RABs (RAB5A, <a href="/entry/179512">179512</a>; RAB35, <a href="/entry/604199">604199</a>), the RAB18 L24Q (<a href="#0001">602207.0001</a>) and R93del (<a href="#0003">602207.0003</a>) mutant proteins did not bind detectable levels of either GDP or GTP and are therefore functionally null. <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> noted that the pathogenicity of these mutations could be explained by their lack of guanosine nucleotide binding because, as for other RAB proteins, this is a prerequisite for correct subcellular localization and function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21473985" 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 4-year-old Egyptian girl with 'classic' Warburg Micro syndrome, <a href="#3" 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 missense mutation in the RAB18 gene (T95R; <a href="#0005">602207.0005</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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<p><a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> investigated the effect of knockdown of rab18 in zebrafish to establish whether rab18 has a conserved role in brain and eye development. The most common abnormalities observed at 3 days post-fertilization in both the rab18a and rab18b morphants were microphthalmia, microcephaly, pericardial edema, delayed jaw formation, a reduced overall body size, and a general developmental delay. Further characterization of the rab18b eye phenotype revealed that the rab18b morphants had delayed retinal development and abnormal retinal lamination, residual nucleated lens fiber cells, widely open choroid fissure, and microphthalmia at day 3. To assess the specificity of the rab18b phenotype, <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> conducted a rescue experiment by synthesizing rab18b mRNA. Partial rescue of the eye defects, pericardial edema, and overall developmental delay was observed at 3 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21473985" 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> rs387906832 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906832;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/rs387906832?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=rs387906832" 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=rs387906832" 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=RCV000023171" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023171" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023171</a>
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<p>In affected members of 4 large consanguineous Pakistani families segregating Warburg Micro syndrome-3 (WARBM3; <a href="/entry/614222">614222</a>), <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> identified a homozygous founder mutation in the RAB18 gene: a 71T-A transition resulting in a leu24-to-gln (L24Q) substitution at a highly conserved residue within the alpha-1 helical domain. Nucleotide-binding assays demonstrated that the L24Q mutant did not bind detectable levels of either GDP or GTP and was thus functionally null. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21473985" 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=RCV000023172" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023172" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023172</a>
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<p>In 2 affected sibs in a consanguineous Turkish family segregating Warburg Micro syndrome-3 (WARBM3; <a href="/entry/614222">614222</a>), <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> identified a homozygous exon 2 deletion predicted to result in a frameshift. The parents were heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21473985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 WARBURG MICRO SYNDROME 3</strong>
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RAB18, 3-BP DEL, NT277
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776875;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=rs587776875" 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=rs587776875" 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=RCV000023173" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023173" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023173</a>
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<p>In an affected sister and brother with Warburg Micro syndrome-3 (WARBM3; <a href="/entry/614222">614222</a>), originally described by <a href="#2" 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="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> identified compound heterozygous mutations in the RAB18 gene: a 3-bp deletion (277_279del) resulting in deletion of arginine-93 (R93del), and an antitermination mutation, a 619T-C transition resulting in a ter207-to-gln (X207Q; <a href="#0004">602207.0004</a>) substitution, predicted to extend RAB18 by 20 amino acids (X207QextTer20) and thus abolish C-terminal prenylation and membrane targeting. In addition, nucleotide-binding assays demonstrated that the R93del mutant did not bind detectable levels of either GDP or GTP and was thus functionally null. <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a> stated that the sibs from this family were the oldest known children with WARBM syndrome at ages 21 and 23 years, respectively. Both had severe intractable epilepsy with myoclonic seizures from an early age, and their brain MRIs showed bilateral frontal polymicrogyria and thinning of the corpus callosum. A nerve conduction study in the boy was markedly abnormal due to severe loss of neurons, suggesting an axonal peripheral neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21473985+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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<strong>.0004 WARBURG MICRO SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906833;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/rs387906833?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=rs387906833" 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=rs387906833" 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=RCV000023174" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023174" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023174</a>
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<p>For discussion of the ter207-to-gln (X207Q) mutation in the RAB18 gene that was found in compound heterozygous state in a brother and sister with Warburg Micro syndrome-3 (WARBM3; <a href="/entry/614222">614222</a>) by <a href="#1" class="mim-tip-reference" title="Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others. <strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong> Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21473985">Bem et al. (2011)</a>, see <a href="#0003">602207.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21473985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 WARBURG MICRO SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777151 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777151;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=rs587777151" 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=rs587777151" 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=RCV000087132" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087132" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087132</a>
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<p>In a 4-year-old Egyptian girl with Warburg Micro syndrome-3 (WARBM3; <a href="/entry/614222">614222</a>), <a href="#3" 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.284C-G transversion in exon 5 of the RAB18 gene, resulting in a thr95-to-arg (T95R) substitution at a conserved residue within the alpha-3 helix. The mutation segregated with disease in the family and was not present in 400 control chromosomes. <a href="#3" 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 the patient exhibited all the features of 'classic' 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>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Bem2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others.
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<strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong>
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Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473985[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=21473985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.03.012" target="_blank">Full Text</a>]
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<a id="Graham2004" class="mim-anchor"></a>
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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="3" 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="4" class="mim-anchor"></a>
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<a id="Hartz2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/28/2009.
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<a id="McMurtrie1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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McMurtrie, E. B., Barbosa, M. D. F. S., Zerial, M., Kingsmore, S. F.
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<strong>Rab17 and Rab18, small GTPases with specificity for polarized epithelial cells: genetic mapping in the mouse.</strong>
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Genomics 45: 623-625, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9367688" 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/10.1006/geno.1997.4959" target="_blank">Full Text</a>]
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<a id="Schafer2000" class="mim-anchor"></a>
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Schafer, U., Seibold, S., Schneider, A., Neugebauer, E.
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<strong>Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine.</strong>
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FEBS Lett. 466: 148-154, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10648831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10648831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10648831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0014-5793(99)01778-0" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Vazquez-Martinez2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vazquez-Martinez, R., Cruz-Garcia, D., Duran-Prado, M., Peinado, J. R., Castano, J. P., Malagon, M. M.
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<strong>Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.</strong>
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Traffic 8: 867-882, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17488286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17488286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17488286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0854.2007.00570.x" 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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Patricia A. Hartz - updated : 5/5/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 2/21/2014<br>Nara Sobreira - updated : 9/12/2011<br>Paul J. Converse - updated : 1/16/2001
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/18/1997
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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mcolton : 08/18/2015
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<span class="mim-text-font">
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mgross : 5/7/2014<br>mcolton : 5/5/2014<br>alopez : 3/4/2014<br>alopez : 2/25/2014<br>mcolton : 2/21/2014<br>carol : 9/29/2011<br>terry : 9/14/2011<br>carol : 9/14/2011<br>terry : 9/12/2011<br>carol : 10/28/2009<br>carol : 10/27/2009<br>mgross : 1/23/2001<br>terry : 1/16/2001<br>carol : 12/14/2000<br>mark : 12/18/1997
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<span class="mim-font">
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<strong>*</strong> 602207
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<h3>
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RAS-ASSOCIATED PROTEIN RAB18; RAB18
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<strong><em>HGNC Approved Gene Symbol: RAB18</em></strong>
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<strong>
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Cytogenetic location: 10p12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:27,504,304-27,542,239 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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10p12.1
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<span class="mim-font">
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Warburg micro syndrome 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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614222
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rab proteins comprise a complex family of small GTPases involved in the regulation of intracellular membrane trafficking and reorganization. Rab18 inhibits secretory activity in vertebrate neuroendocrine cells (Vazquez-Martinez et al., 2007). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By stimulating umbilical vein endothelial cells (HUVEC) with histamine and differential display gene expression analysis, Schafer et al. (2000) isolated a cDNA encoding RAB18. The deduced 206-amino acid protein shares 98%, 92%, and 85% identity with the mouse, snail, and worm sequences, respectively. RAB18 contains totally conserved phosphate/Mg(2+)-binding motifs and guanine-binding motifs as well as somewhat variable organelle-targeting regions. Northern blot analysis detected 2.5- and 1.0-kb transcripts in endothelial cells but not in smooth muscle cells or leukocytes. RT-PCR analysis suggested ubiquitous expression, which HPLC analysis determined to be strongest in heart, kidney, pancreas, lung, and liver, with weak expression in brain, placenta, and skeletal muscle. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schafer et al. (2000) reported that stimulation of polarized HUVEC or nonpolarized mononuclear cells with histamine showed a significant time- and dose-dependent increase of RAB18 transcript in both cell types, suggesting a possible role for Rab proteins in inflammation. </p><p>Vazquez-Martinez et al. (2007) found that Rab18 localized to the cytosol in rat PC12 adrenal chromaffin cells and AtT20 mouse pituitary corticotropes. However, Rab18 associated with a subpopulation of secretory granules after stimulation of the regulated secretory pathway and subsequently relocalized to the cell surface. A dominant-inactive rat Rab18 mutant distributed diffusely in the cytosol, whereas a dominant-active rat Rab18 mutant predominantly associated with secretory granules. Interaction with Rab18 slowed secretory granule movement and inhibited secretory activity of PC12 and AtT20 cells in response to stimulatory challenges. Immunoelectron microscopy of normal frog pituitary melanotropes showed an inverse correlation between Rab18 protein content and secretory activity. Vazquez-Martinez et al. (2007) concluded that RAB18 acts as a negative regulator of secretory activity by impairing secretory granule transport. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>McMurtrie et al. (1997) mapped the mouse Rab18 gene to chromosome 18. </p><p>Hartz (2009) mapped the RAB18 gene to chromosome 10p12.1 based on an alignment of the RAB18 sequence (GenBank AA216667) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 5 large consanguineous families, 4 Pakistani and 1 Turkish, segregating Warburg Micro syndrome (WARBM3; 614222), Bem et al. (2011) identified homozygous loss-of-function mutations in the RAB18 gene (602207.0001 and 602207.0002, respectively). Direct sequencing for RAB18 mutations in 58 additional families segregating Warburg Micro syndrome detected compound heterozygous mutations (602207.0003-602207.0004) in affected sibs of 1 family. Bem et al. (2011) performed nucleotide-binding assays and showed that although RAB18 bound GDP and GTP comparably to other RABs (RAB5A, 179512; RAB35, 604199), the RAB18 L24Q (602207.0001) and R93del (602207.0003) mutant proteins did not bind detectable levels of either GDP or GTP and are therefore functionally null. Bem et al. (2011) noted that the pathogenicity of these mutations could be explained by their lack of guanosine nucleotide binding because, as for other RAB proteins, this is a prerequisite for correct subcellular localization and function. </p><p>In a 4-year-old Egyptian girl with 'classic' Warburg Micro syndrome, Handley et al. (2013) identified homozygosity for a missense mutation in the RAB18 gene (T95R; 602207.0005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bem et al. (2011) investigated the effect of knockdown of rab18 in zebrafish to establish whether rab18 has a conserved role in brain and eye development. The most common abnormalities observed at 3 days post-fertilization in both the rab18a and rab18b morphants were microphthalmia, microcephaly, pericardial edema, delayed jaw formation, a reduced overall body size, and a general developmental delay. Further characterization of the rab18b eye phenotype revealed that the rab18b morphants had delayed retinal development and abnormal retinal lamination, residual nucleated lens fiber cells, widely open choroid fissure, and microphthalmia at day 3. To assess the specificity of the rab18b phenotype, Bem et al. (2011) conducted a rescue experiment by synthesizing rab18b mRNA. Partial rescue of the eye defects, pericardial edema, and overall developmental delay was observed at 3 days. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 WARBURG MICRO SYNDROME 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RAB18, LEU24GLN
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<br />
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SNP: rs387906832,
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gnomAD: rs387906832,
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ClinVar: RCV000023171
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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 affected members of 4 large consanguineous Pakistani families segregating Warburg Micro syndrome-3 (WARBM3; 614222), Bem et al. (2011) identified a homozygous founder mutation in the RAB18 gene: a 71T-A transition resulting in a leu24-to-gln (L24Q) substitution at a highly conserved residue within the alpha-1 helical domain. Nucleotide-binding assays demonstrated that the L24Q mutant did not bind detectable levels of either GDP or GTP and was thus functionally null. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 WARBURG MICRO SYNDROME 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RAB18, EX2DEL
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<br />
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ClinVar: RCV000023172
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected sibs in a consanguineous Turkish family segregating Warburg Micro syndrome-3 (WARBM3; 614222), Bem et al. (2011) identified a homozygous exon 2 deletion predicted to result in a frameshift. The parents were heterozygous for the deletion. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 WARBURG MICRO SYNDROME 3</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
RAB18, 3-BP DEL, NT277
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|
<br />
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|
|
SNP: rs587776875,
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|
|
ClinVar: RCV000023173
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an affected sister and brother with Warburg Micro syndrome-3 (WARBM3; 614222), originally described by Graham et al. (2004), Bem et al. (2011) identified compound heterozygous mutations in the RAB18 gene: a 3-bp deletion (277_279del) resulting in deletion of arginine-93 (R93del), and an antitermination mutation, a 619T-C transition resulting in a ter207-to-gln (X207Q; 602207.0004) substitution, predicted to extend RAB18 by 20 amino acids (X207QextTer20) and thus abolish C-terminal prenylation and membrane targeting. In addition, nucleotide-binding assays demonstrated that the R93del mutant did not bind detectable levels of either GDP or GTP and was thus functionally null. Bem et al. (2011) stated that the sibs from this family were the oldest known children with WARBM syndrome at ages 21 and 23 years, respectively. Both had severe intractable epilepsy with myoclonic seizures from an early age, and their brain MRIs showed bilateral frontal polymicrogyria and thinning of the corpus callosum. A nerve conduction study in the boy was markedly abnormal due to severe loss of neurons, suggesting an axonal peripheral neuropathy. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 WARBURG MICRO SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
RAB18, TER207GLN
|
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|
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|
|
<br />
|
|
|
|
SNP: rs387906833,
|
|
|
|
|
|
gnomAD: rs387906833,
|
|
|
|
|
|
ClinVar: RCV000023174
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ter207-to-gln (X207Q) mutation in the RAB18 gene that was found in compound heterozygous state in a brother and sister with Warburg Micro syndrome-3 (WARBM3; 614222) by Bem et al. (2011), see 602207.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 WARBURG MICRO SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RAB18, THR95ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777151,
|
|
|
|
|
|
|
|
ClinVar: RCV000087132
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Egyptian girl with Warburg Micro syndrome-3 (WARBM3; 614222), Handley et al. (2013) identified homozygosity for a c.284C-G transversion in exon 5 of the RAB18 gene, resulting in a thr95-to-arg (T95R) substitution at a conserved residue within the alpha-3 helix. The mutation segregated with disease in the family and was not present in 400 control chromosomes. Handley et al. (2013) noted that the patient exhibited all the features of 'classic' Warburg Micro syndrome. </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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bem, D., Yoshimura, S.-I., Nunes-Bastos, R., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., and 15 others.
|
|
<strong>Loss-of-function mutations in RAB18 cause Warburg Micro syndrome.</strong>
|
|
Am. J. Hum. Genet. 88: 499-507, 2011. Note: Erratum: Am. J. Hum. Genet. 88: 678 only, 2011.
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[PubMed: 21473985]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.03.012]
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</p>
|
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</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>
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</li>
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<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.
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|
[PubMed: 23420520]
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[Full Text: https://doi.org/10.1002/humu.22296]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/28/2009.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McMurtrie, E. B., Barbosa, M. D. F. S., Zerial, M., Kingsmore, S. F.
|
|
<strong>Rab17 and Rab18, small GTPases with specificity for polarized epithelial cells: genetic mapping in the mouse.</strong>
|
|
Genomics 45: 623-625, 1997.
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|
[PubMed: 9367688]
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[Full Text: https://doi.org/10.1006/geno.1997.4959]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schafer, U., Seibold, S., Schneider, A., Neugebauer, E.
|
|
<strong>Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine.</strong>
|
|
FEBS Lett. 466: 148-154, 2000.
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|
[PubMed: 10648831]
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[Full Text: https://doi.org/10.1016/s0014-5793(99)01778-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Vazquez-Martinez, R., Cruz-Garcia, D., Duran-Prado, M., Peinado, J. R., Castano, J. P., Malagon, M. M.
|
|
<strong>Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.</strong>
|
|
Traffic 8: 867-882, 2007.
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|
|
[PubMed: 17488286]
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[Full Text: https://doi.org/10.1111/j.1600-0854.2007.00570.x]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 5/5/2014<br>Marla J. F. O'Neill - updated : 2/21/2014<br>Nara Sobreira - updated : 9/12/2011<br>Paul J. Converse - updated : 1/16/2001
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 12/18/1997
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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mcolton : 08/18/2015<br>mgross : 5/7/2014<br>mcolton : 5/5/2014<br>alopez : 3/4/2014<br>alopez : 2/25/2014<br>mcolton : 2/21/2014<br>carol : 9/29/2011<br>terry : 9/14/2011<br>carol : 9/14/2011<br>terry : 9/12/2011<br>carol : 10/28/2009<br>carol : 10/27/2009<br>mgross : 1/23/2001<br>terry : 1/16/2001<br>carol : 12/14/2000<br>mark : 12/18/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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