2696 lines
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Entry
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- *613976 - FANCE GENE; FANCE
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- OMIM
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<p>
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<span class="h4">*613976</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</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/613976">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000112039;t=ENST00000229769" 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=2178" 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=613976" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000112039;t=ENST00000229769" 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_001410876,NM_021922,XM_005248885,XM_005248886,XM_005248887,XM_011514343,XM_047418300,XM_047418301,XM_047418302,XM_047418303" 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_021922" 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=613976" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/FANCE" 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/10334802,11345454,28204948,45476978,63021424,119624235,158258481,530381535,530381537,530381539,767939372,2217359988,2217359991,2217359994,2217359996,2287478813,2462606531,2462606533,2462606535,2462606537,2462606539,2462606541,2462606543,2462606545" 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/Q9HB96" 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=2178" 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=ENSG00000112039;t=ENST00000229769" 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=FANCE" 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=FANCE" 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+2178" 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/FANCE" 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:2178" 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/2178" 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=chr6&hgg_gene=ENST00000229769.3&hgg_start=35452338&hgg_end=35467102&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3586" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3586" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613976[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=613976[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/ENSG00000112039" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=FANCE" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=FANCE" 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=FANCE" 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=FANCE&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/PA28000" 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:3586" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1920025" 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/FANCE#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:1920025" 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/2178/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=2178" 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://zfin.org/ZDB-GENE-060510-5" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2178" 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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<div><a href="https://reactome.org/content/query?q=FANCE&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613976
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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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FANCE GENE; FANCE
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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=FANCE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FANCE</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/6/427?start=-3&limit=10&highlight=427">6p21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:35452338-35467102&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'})">6:35,452,338-35,467,102</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/6/427?start=-3&limit=10&highlight=427">
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6p21.31
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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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Fanconi anemia, complementation group E
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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/600901"> 600901 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613976" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613976" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By complementation cloning, <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al. (2000)</a> identified the FANCE gene. The deduced 536-amino acid protein contains 2 potential nuclear localization signals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<p>The FANCE gene contains 10 exons (<a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001585" 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>The FANCE gene maps to chromosome 6p22-p21 (<a href="#6" class="mim-tip-reference" title="Waisfisz, Q., Saar, K., Morgan, N. V., Altay, C., Leegwater, P. A., de Winter, J. P., Komatsu, K., Evans, G. R., Wegner, R.-D., Reis, A., Joenje, H., Arwert, F., Mathew, C. G., Pronk, J. C., Digweed, M. <strong>The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.</strong> Am. J. Hum. Genet. 64: 1400-1405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10205272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10205272</a>] [<a href="https://doi.org/10.1086/302385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10205272">Waisfisz et al., 1999</a>; <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11001585+10205272" 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>The Fanconi anemia (FA) nuclear complex (composed of the FA proteins A, C, G and F) is essential for protection against chromosome breakage. It activates the downstream protein FANCD2 (see <a href="/entry/227646">227646</a>) by monoubiquitylation; this then forges an association with the BRCA1 (<a href="/entry/113705">113705</a>) protein at sites of DNA damage. <a href="#5" class="mim-tip-reference" title="Pace, P., Johnson, M., Tan, W. M., Mosedale, G., Sng, C., Hoatlin, M., de Winter, J., Joenje, H., Gergely, F., Patel, K. J. <strong>FANCE: the link between Fanconi anaemia complex assembly and activity.</strong> EMBO J. 21: 3414-3423, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12093742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12093742</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12093742[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/10.1093/emboj/cdf355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12093742">Pace et al. (2002)</a> showed that the FANCE protein is part of this nuclear complex, binding both FANCC (<a href="/entry/613899">613899</a>) and FANCD2. Indeed, FANCE is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus, and are unable to prevent chromosome breakage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12093742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, <a href="#4" class="mim-tip-reference" title="Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W. <strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong> Molec. Cell. Biol. 23: 3417-3426, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.10.3417-3426.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12724401">Meetei et al. (2003)</a> identified 3 distinct multiprotein complexes associated with BLM (RECQL3; <a href="/entry/604610">604610</a>). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (<a href="/entry/607139">607139</a>), FANCG (<a href="/entry/602956">602956</a>), FANCC, FANCE, and FANCF (<a href="/entry/603467">603467</a>), as well as topoisomerase III-alpha (TOP3A; <a href="/entry/601243">601243</a>) and replication protein A (RPA; see <a href="/entry/179835">179835</a>). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12724401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 patients with Fanconi anemia, 2 from Turkey and 1 from Bangladesh, <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al. (2000)</a> identified homozygous mutations in the FANCE gene (<a href="#0001">613976.0001</a>-<a href="#0003">613976.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001585" 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=613976[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434505 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434505;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/rs121434505?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=rs121434505" 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=rs121434505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Turkish patient with group E Fanconi anemia (FANCE; <a href="/entry/600901">600901</a>) reported by <a href="#3" class="mim-tip-reference" title="Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F. <strong>Evidence for at least eight Fanconi anemia genes.</strong> Am. J. Hum. Genet. 61: 940-944, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382107</a>] [<a href="https://doi.org/10.1086/514881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382107">Joenje et al. (1997)</a>, <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al. (2000)</a> identified homozygosity for a 355C-T transition in the FANCE gene, leading to a gln119-to-ter (Q119X) nonsense change in the protein. The parents and an unaffected brother were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11001585+9382107" 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> rs121434506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434506;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/rs121434506?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=rs121434506" 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=rs121434506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient in Bangladesh with group E Fanconi anemia (FANCE; <a href="/entry/600901">600901</a>), <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al. (2000)</a> identified homozygosity for a 421C-T transition in exon 2 of the FANCE gene, resulting in an arg141-to-ter (R141X) nonsense change in the protein. The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001585" 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 FANCONI ANEMIA, COMPLEMENTATION GROUP E</strong>
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FANCE, IVS5AS, G-A, -8
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs878854342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878854342;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=rs878854342" 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=rs878854342" 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=RCV000009249 OR RCV003884334" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009249, RCV003884334" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009249...</a>
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<p>In a Turkish patient (EUFA130) with group E Fanconi anemia (FANCE; <a href="/entry/600901">600901</a>) reported by <a href="#6" class="mim-tip-reference" title="Waisfisz, Q., Saar, K., Morgan, N. V., Altay, C., Leegwater, P. A., de Winter, J. P., Komatsu, K., Evans, G. R., Wegner, R.-D., Reis, A., Joenje, H., Arwert, F., Mathew, C. G., Pronk, J. C., Digweed, M. <strong>The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.</strong> Am. J. Hum. Genet. 64: 1400-1405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10205272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10205272</a>] [<a href="https://doi.org/10.1086/302385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10205272">Waisfisz et al. (1999)</a>, the first FANCE patient identified by <a href="#2" class="mim-tip-reference" title="Joenje, H., Lo Ten Foe, J. R., Oostra, A. B., van Berkel, C. G. M., Rooimans, M. A., Schroeder-Kurth, T., Wegner, R.-D., Gille, J. J. P., Buchwald, M., Arwert, F. <strong>Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.</strong> Blood 86: 2156-2160, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7662964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7662964</a>]" pmid="7662964">Joenje et al. (1995)</a>, <a href="#1" class="mim-tip-reference" title="de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H. <strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong> Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62959-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001585">de Winter et al. (2000)</a> identified homozygosity for a G-to-A change at position -8 in intron 5 of the FANCE gene, an alternative splice acceptor site. Sequence analysis indicated that this mutation results in false splicing and incorporation of 6 nucleotides from intron 5, including an in-frame stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7662964+10205272+11001585" 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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de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H.
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<strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong>
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Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001585" 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/S0002-9297(07)62959-0" target="_blank">Full Text</a>]
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Joenje, H., Lo Ten Foe, J. R., Oostra, A. B., van Berkel, C. G. M., Rooimans, M. A., Schroeder-Kurth, T., Wegner, R.-D., Gille, J. J. P., Buchwald, M., Arwert, F.
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<strong>Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.</strong>
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Blood 86: 2156-2160, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7662964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7662964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7662964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Joenje1997" class="mim-anchor"></a>
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Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F.
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<strong>Evidence for at least eight Fanconi anemia genes.</strong>
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Am. J. Hum. Genet. 61: 940-944, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382107" 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/10.1086/514881" target="_blank">Full Text</a>]
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<a id="Meetei2003" class="mim-anchor"></a>
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Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W.
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<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
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Molec. Cell. Biol. 23: 3417-3426, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[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=12724401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.10.3417-3426.2003" target="_blank">Full Text</a>]
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Pace, P., Johnson, M., Tan, W. M., Mosedale, G., Sng, C., Hoatlin, M., de Winter, J., Joenje, H., Gergely, F., Patel, K. J.
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<strong>FANCE: the link between Fanconi anaemia complex assembly and activity.</strong>
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EMBO J. 21: 3414-3423, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12093742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12093742</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12093742[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=12093742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/cdf355" target="_blank">Full Text</a>]
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Waisfisz, Q., Saar, K., Morgan, N. V., Altay, C., Leegwater, P. A., de Winter, J. P., Komatsu, K., Evans, G. R., Wegner, R.-D., Reis, A., Joenje, H., Arwert, F., Mathew, C. G., Pronk, J. C., Digweed, M.
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<strong>The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.</strong>
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Am. J. Hum. Genet. 64: 1400-1405, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10205272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10205272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10205272" 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/10.1086/302385" target="_blank">Full Text</a>]
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Creation Date:
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Carol A. Bocchini : 5/16/2011
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carol : 04/19/2019
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carol : 10/21/2016<br>carol : 06/24/2016<br>carol : 6/24/2016<br>carol : 7/11/2011<br>carol : 7/8/2011<br>alopez : 5/19/2011<br>carol : 5/16/2011
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Cytogenetic location: 6p21.31
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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6p21.31
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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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Fanconi anemia, complementation group E
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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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600901
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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>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By complementation cloning, de Winter et al. (2000) identified the FANCE gene. The deduced 536-amino acid protein contains 2 potential nuclear localization signals. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The FANCE gene contains 10 exons (de Winter et al., 2000). </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>The FANCE gene maps to chromosome 6p22-p21 (Waisfisz et al., 1999; de Winter et al., 2000). </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>The Fanconi anemia (FA) nuclear complex (composed of the FA proteins A, C, G and F) is essential for protection against chromosome breakage. It activates the downstream protein FANCD2 (see 227646) by monoubiquitylation; this then forges an association with the BRCA1 (113705) protein at sites of DNA damage. Pace et al. (2002) showed that the FANCE protein is part of this nuclear complex, binding both FANCC (613899) and FANCD2. Indeed, FANCE is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus, and are unable to prevent chromosome breakage. </p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, Meetei et al. (2003) identified 3 distinct multiprotein complexes associated with BLM (RECQL3; 604610). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (607139), FANCG (602956), FANCC, FANCE, and FANCF (603467), as well as topoisomerase III-alpha (TOP3A; 601243) and replication protein A (RPA; see 179835). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. </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 3 patients with Fanconi anemia, 2 from Turkey and 1 from Bangladesh, de Winter et al. (2000) identified homozygous mutations in the FANCE gene (613976.0001-613976.0003). </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>3 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP E</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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FANCE, GLN119TER
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<br />
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|
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SNP: rs121434505,
|
|
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|
|
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gnomAD: rs121434505,
|
|
|
|
|
|
ClinVar: RCV000009247
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish patient with group E Fanconi anemia (FANCE; 600901) reported by Joenje et al. (1997), de Winter et al. (2000) identified homozygosity for a 355C-T transition in the FANCE gene, leading to a gln119-to-ter (Q119X) nonsense change in the protein. The parents and an unaffected brother were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP E</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FANCE, ARG141TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434506,
|
|
|
|
|
|
gnomAD: rs121434506,
|
|
|
|
|
|
ClinVar: RCV000009248
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient in Bangladesh with group E Fanconi anemia (FANCE; 600901), de Winter et al. (2000) identified homozygosity for a 421C-T transition in exon 2 of the FANCE gene, resulting in an arg141-to-ter (R141X) nonsense change in the protein. The parents were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP E</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FANCE, IVS5AS, G-A, -8
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs878854342,
|
|
|
|
|
|
|
|
ClinVar: RCV000009249, RCV003884334
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish patient (EUFA130) with group E Fanconi anemia (FANCE; 600901) reported by Waisfisz et al. (1999), the first FANCE patient identified by Joenje et al. (1995), de Winter et al. (2000) identified homozygosity for a G-to-A change at position -8 in intron 5 of the FANCE gene, an alternative splice acceptor site. Sequence analysis indicated that this mutation results in false splicing and incorporation of 6 nucleotides from intron 5, including an in-frame stop codon. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</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>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Winter, J. P., Leveille, F., van Berkel, C. G. M., Rooimans, M. A., van der Weel, L., Steltenpool, J., Demuth, I., Morgan, N. V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P. A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J. C., Mathew, C. G., Digweed, M., Buchwald, M., Joenje, H.
|
|
<strong>Isolation of a cDNA representing the Fanconi anemia complementation group E gene.</strong>
|
|
Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.
|
|
|
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|
|
[PubMed: 11001585]
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|
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[Full Text: https://doi.org/10.1016/S0002-9297(07)62959-0]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Joenje, H., Lo Ten Foe, J. R., Oostra, A. B., van Berkel, C. G. M., Rooimans, M. A., Schroeder-Kurth, T., Wegner, R.-D., Gille, J. J. P., Buchwald, M., Arwert, F.
|
|
<strong>Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.</strong>
|
|
Blood 86: 2156-2160, 1995.
|
|
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|
|
|
[PubMed: 7662964]
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|
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Joenje, H., Oostra, A. B., Wijker, M., di Summa, F. M., van Berkel, C. G. M., Rooimans, M. A., Ebell, W., van Weel, M., Pronk, J. C., Buchwald, M., Arwert, F.
|
|
<strong>Evidence for at least eight Fanconi anemia genes.</strong>
|
|
Am. J. Hum. Genet. 61: 940-944, 1997.
|
|
|
|
|
|
[PubMed: 9382107]
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|
|
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|
|
[Full Text: https://doi.org/10.1086/514881]
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|
|
</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W.
|
|
<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
|
|
Molec. Cell. Biol. 23: 3417-3426, 2003.
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|
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[PubMed: 12724401]
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[Full Text: https://doi.org/10.1128/MCB.23.10.3417-3426.2003]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Pace, P., Johnson, M., Tan, W. M., Mosedale, G., Sng, C., Hoatlin, M., de Winter, J., Joenje, H., Gergely, F., Patel, K. J.
|
|
<strong>FANCE: the link between Fanconi anaemia complex assembly and activity.</strong>
|
|
EMBO J. 21: 3414-3423, 2002.
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|
|
[PubMed: 12093742]
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[Full Text: https://doi.org/10.1093/emboj/cdf355]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Waisfisz, Q., Saar, K., Morgan, N. V., Altay, C., Leegwater, P. A., de Winter, J. P., Komatsu, K., Evans, G. R., Wegner, R.-D., Reis, A., Joenje, H., Arwert, F., Mathew, C. G., Pronk, J. C., Digweed, M.
|
|
<strong>The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.</strong>
|
|
Am. J. Hum. Genet. 64: 1400-1405, 1999.
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|
|
|
|
|
[PubMed: 10205272]
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|
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|
|
[Full Text: https://doi.org/10.1086/302385]
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</p>
|
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</li>
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|
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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">
|
|
Creation Date:
|
|
</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">
|
|
Carol A. Bocchini : 5/16/2011
|
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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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carol : 04/19/2019<br>carol : 10/21/2016<br>carol : 06/24/2016<br>carol : 6/24/2016<br>carol : 7/11/2011<br>carol : 7/8/2011<br>alopez : 5/19/2011<br>carol : 5/16/2011
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</span>
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</div>
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</div>
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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