3818 lines
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Entry
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- *608662 - ANOCTAMIN 5; ANO5
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608662</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608662">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000171714;t=ENST00000324559" 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=203859" 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=608662" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000171714;t=ENST00000324559" 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_001142649,NM_001410963,NM_001410964,NM_213599,XM_005252822,XM_011519949,XM_047426522" 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_213599" 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=608662" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10558&isoform_id=10558_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ANO5" 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/46849562,47106048,74749827,119588731,218081589,530395134,767965523,1444397591,2217281589,2287780755,2287780821,2462523537,2462523539" 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/Q75V66" 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=203859" 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=ENSG00000171714;t=ENST00000324559" 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=ANO5" 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=ANO5" 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+203859" 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/ANO5" 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:203859" 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/203859" 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=chr11&hgg_gene=ENST00000324559.9&hgg_start=22192473&hgg_end=22283357&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/genes/HGNC:27337" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ano5" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608662[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608662[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ANO5/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000171714" 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=ANO5" 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=ANO5" 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=ANO5" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/ANO5" title="ANO5 - Leiden Muscular Dystrophy pages" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ANO5 - Leiden Muscular Dys…</a></div><div style="margin-left: 0.5em;"><a href="http://www.medgen.mcgill.ca/ANO5/home.php?select_db=ANO5" title="ANO5 LOVD - Leiden Open Variation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ANO5 LOVD - Leiden Open Va…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ANO5&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/PA164715641" 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:27337" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036235.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:3576659" 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/ANO5#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:3576659" 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/203859/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002242/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=203859" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00010138;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061215-108" 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:203859" 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=ANO5&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715568002, 726616006, 783166000<br />
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<strong>ICD10CM:</strong> G71.035<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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608662
|
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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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ANOCTAMIN 5; ANO5
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
TRANSMEMBRANE PROTEIN 16E; TMEM16E<br />
|
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GDD1 GENE; GDD1
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ANO5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ANO5</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/243?start=-3&limit=10&highlight=243">11p14.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:22192473-22283357&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'})">11:22,192,473-22,283,357</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=166260,613319,611307" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/243?start=-3&limit=10&highlight=243">
|
|
11p14.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Gnathodiaphyseal dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/166260"> 166260 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<p>ANO5 is a member of the anoctamin family of calcium-activated chloride channels (summary by <a href="#7" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By searching databases for sequences similar to TMEM16A (ANO1; <a href="/entry/610108">610108</a>), <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> identified TMEM16E (ANO5). The deduced 913-amino acid protein contains 8 transmembrane domains. The N and C termini are cytoplasmic, and the extracellular regions contain 6 putative N-glycosylation sites. <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> also identified a splice variant lacking exon 4. TMEM16E and TMEM16F (ANO6; <a href="/entry/608663">608663</a>) share 50.3% amino acid identity. By EST database analysis, <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> determined that TMEM16E is expressed in testis and pancreatic islet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a search for candidate genes for gnathodiaphyseal dysplasia (GDD; <a href="/entry/166260">166260</a>), <a href="#10" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> identified a novel gene (ANO5), which they named GDD1, within the GDD critical region on 11p15.1-p14.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15124103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> determined that the TMEM16E gene contains 22 exons and spans more than 88.8 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> determined that the TMEM16E gene spans approximately 90 kb of genomic DNA. The initiation and stop codons (ATG and TAA) are present in exons 1 and 22, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15124103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Mizuta, K., Tsutsumi, S., Inoue, H., Sakamoto, Y., Miyatake, K., Miyawaki, K., Noji, S., Kamata, N., Itakura, M. <strong>Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.</strong> Biochem. Biophys. Res. Commun. 357: 126-132, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17418107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17418107</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.03.108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17418107">Mizuta et al. (2007)</a> studied the molecular and biochemical functions of GDD1 protein. They examined the murine GDD1 gene expression pattern during embryonic development, and characterized the cellular and tissue localizations of its gene product using a GDD1-specific antibody. In the developing embryos, GDD1 mRNA expression was principally associated with differentiating and developing somites, with a highly complex spatiotemporal pattern that involved the myotomal and sclerotomal lineages of somites. Biochemical studies indicated that GDD1 protein is an integral membrane glycoprotein that resides predominantly in intracellular vesicles. Immunohistochemical analysis showed a high level of murine GDD1 protein expression in cardiac and skeletal muscle tissues, and in growth-plate chondrocytes and osteoblasts in bone. The observations suggested that the GDD1 protein has diverse cellular role(s) in the development of the musculoskeletal system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17418107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In contrast to cells transfected with ANO1, <a href="#7" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> found that transfection of ANO5 into HEK293 cells did not result in calcium-activated anionic transport, suggesting that ANO5 does not act as a plasma membrane calcium-activated chloride channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> mapped the TMEM16E gene to chromosome 11p14.3, where it is linked to the NELL1 gene (<a href="/entry/602319">602319</a>) at chromosome 11p15.1. This locus is paralogous to the NELL2 (<a href="/entry/602320">602320</a>)-TMEM16F locus on chromosome 12q12. <a href="#5" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong> Int. J. Oncol. 24: 1345-1349, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>]" pmid="15067359">Katoh and Katoh (2004)</a> also mapped the mouse Tmem16e gene to chromosome 7B3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067359" 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="#10" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> identified heterozygous mutations in the GDD1 gene in patients from 2 families with gnathodiaphyseal dysplasia (GDD; <a href="/entry/166260">166260</a>): C356R (<a href="#0001">608662.0001</a>) in the original Japanese family reported by <a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a> and C356G (<a href="#0002">608662.0002</a>) in an African American family. The cysteine residue at amino acid 356 is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggested a role for the gene product in the regulation of intracellular calcium homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816667+15124103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> identified a heterozygous missense mutation in the ANO5 gene (<a href="#0009">608662.0009</a>) in affected members of an Italian family with gnathodiaphyseal dysplasia. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Recessive Muscular Dystrophies</em></strong></p><p>
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In affected individuals with autosomal recessive limb-girdle muscular dystrophy-12 (LGMDR12; <a href="/entry/611307">611307</a>), previously symbolized LGMD2L, <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified homozygous or compound heterozygous mutations in the ANO5 gene (<a href="#0003">608662.0003</a>-<a href="#0005">608662.0005</a>). The phenotype was characterized by late-onset proximal scapular and pelvic girdle muscle weakness and asymmetrical muscle atrophy. <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified a homozygous mutation in the ANO5 gene (<a href="#0006">608662.0006</a>) in 2 Finnish brothers with late-onset distal Miyoshi muscular dystrophy-3 (MMD3; <a href="/entry/613319">613319</a>). One woman with a phenotype overlapping that of LGMD2L and MMD3 was compound heterozygous for 2 mutations (<a href="#0004">608662.0004</a>-<a href="#0005">608662.0005</a>). The findings indicated that these 2 disorders are allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20096397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> found 11 different recessive mutations in the ANO5 gene in 25 (about 25%) of 101 patients with undiagnosed distal calf myopathy or LGMD. Eighteen patients were Finnish, 2 were Spanish, 3 were American of German descent, 1 was Australian, and 1 was Italian. The most common mutation was R758C (<a href="#0006">608662.0006</a>), homozygous in 9 Finnish patients and heterozygous in 11 patients, followed by 191dupA (<a href="#0004">608662.0004</a>), which was found in 10 patients. Other mutations (see, e.g., <a href="#0007">608662.0007</a>-<a href="#0008">608662.0008</a>) were private. Although all patients had increased serum creatine kinase, part of the inclusion criteria, the phenotype was variable and there were no genotype/phenotype correlations. Most males had proximal muscle weakness affecting the lower and/or upper limbs, most consistent with LGMD2L, whereas females had milder symptoms such as myalgias, calf hypertrophy, or isolated hyperCKemia in the absence of clinical muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>9 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608662[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">rs119103234 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103234;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=rs119103234" 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=rs119103234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the Japanese family in which gnathodiaphyseal dysplasia (GDD; <a href="/entry/166260">166260</a>) was first described by <a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a>, <a href="#10" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> identified heterozygosity for a cys356-to-arg (C356R) mutation caused by a T-to-C transition in exon 11 of the GDD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816667+15124103" 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 an African American family with gnathodiaphyseal dysplasia (GDD; <a href="/entry/166260">166260</a>), <a href="#10" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> identified a T-to-G transversion in exon 11 of the GDD1 gene, resulting in a cys356-to-gly (C356G) substitution. A father and son were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15124103" 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> rs137854524 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854524;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/rs137854524?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=rs137854524" 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=rs137854524" 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=RCV000002246 OR RCV000082843 OR RCV000762831 OR RCV001851575 OR RCV003234889 OR RCV004732524" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002246, RCV000082843, RCV000762831, RCV001851575, RCV003234889, RCV004732524" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002246...</a>
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<p>In affected members of 2 unrelated French Canadian families with limb-girdle muscular dystrophy type 2L (LGMDR12; <a href="/entry/611307">611307</a>), <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified a homozygous 1295C-G transversion in exon 13 of the ANO5 gene, which created a putative splice donor site within exon 13. Amplification and sequencing of patient cDNA confirmed the aberrant splicing of exon 13, resulting in a frameshift and premature termination consistent with a loss of function. One of the families was known to be consanguineous and had been reported by <a href="#4" class="mim-tip-reference" title="Jarry, J., Rioux, M. F., Bolduc, V., Robitaille, Y., Khoury, V., Thiffault, I., Tetreault, M., Loisel, L., Bouchard, J. P., Brais, B. <strong>A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.</strong> Brain 130: 368-380, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17008331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17008331</a>] [<a href="https://doi.org/10.1093/brain/awl270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17008331">Jarry et al. (2007)</a>. Haplotype analysis suggested a founder effect. The mutation was not found in 210 French Canadian or 162 CEPH control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17008331+20096397" 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">rs137854521 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854521;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=rs137854521" 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=rs137854521" 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=RCV000002247 OR RCV000002248 OR RCV000082844 OR RCV000200720 OR RCV000414931 OR RCV000627021 OR RCV000627781 OR RCV000778317 OR RCV001196017 OR RCV001251667 OR RCV002307353 OR RCV002476911 OR RCV003332991" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002247, RCV000002248, RCV000082844, RCV000200720, RCV000414931, RCV000627021, RCV000627781, RCV000778317, RCV001196017, RCV001251667, RCV002307353, RCV002476911, RCV003332991" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002247...</a>
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<p><a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> found homozygosity for a 1-bp duplication (191dupA) in exon 5 of the ANO5 gene in a Dutch family with Miyoshi muscular dystrophy-3 (MMD3; <a href="/entry/613319">613319</a>) originally reported by <a href="#6" class="mim-tip-reference" title="Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A. <strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong> Neuromusc. Disord. 8: 317-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00020-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673985">Linssen et al. (1998)</a> as family IV. The 191dupA mutation resulted in a frameshift and premature termination, consistent with a loss of function. It was absent in 210 French Canadian and 152 CEPH control chromosomes, but was identified in 1 of 100 UK and 2 of 210 Dutch control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20096397+9673985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 63-year-old French Canadian woman with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; <a href="/entry/611307">611307</a>) and mild distal limb weakness, <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified compound heterozygosity for 191dupA and a 692G-T transversion in exon 8 of the ANO5 gene, resulting in a gly231-to-val substitution (G231V; <a href="#0005">608662.0005</a>) in the intracellular N-terminal tail. The patient had late-onset asymmetric proximal upper limb and iliopsoas weakness and distal upper and lower limb weakness, as well as increased serum creatine kinase. <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> noted that the phenotype overlapped between LGMD2L and Miyoshi myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20096397" 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>Among 25 patients, mostly of Finnish descent, with variable muscle disorders due to recessive ANO5 mutations, <a href="#9" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> found that 191dupA was the second most common mutation, occurring in the heterozygous state with another ANO5 mutation in 10 patients. The phenotype was highly variable: female mutation carriers had a mild disorder with myalgia and/or calf hypertrophy and hyperCKemia, whereas men with the mutation showed distal lower limb weakness or proximal upper and lower limb muscle weakness. The findings indicated that this mutation can be associated with a variety of muscle phenotypes. Two Spanish brothers with LGMD2L were compound heterozygous for 191dupA and G231V. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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> rs137854523 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854523;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/rs137854523?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=rs137854523" 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=rs137854523" 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=RCV000002249 OR RCV000082853 OR RCV000369126 OR RCV000627782 OR RCV000762830 OR RCV000825558 OR RCV003993729 OR RCV003993730" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002249, RCV000082853, RCV000369126, RCV000627782, RCV000762830, RCV000825558, RCV003993729, RCV003993730" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002249...</a>
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<p>For discussion of the 692G-T transversion in exon 8 of the ANO5 gene, resulting in a gly231-to-val substitution (G231V) in the intracellular N-terminal tail, that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy type 2L (LGMDR12; <a href="/entry/611307">611307</a>) and mild distal limb weakness by <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a>, see <a href="#0004">608662.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20096397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Finnish brothers with Miyoshi muscular dystrophy-3 (MMD3; <a href="/entry/613319">613319</a>), <a href="#2" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified a homozygous 2272C-T transition in exon 20 of the ANO5 gene, resulting in an arg758-to-cys (R758C) substitution in a conserved residue in an extracellular loop. The R758C variant was not detected in 100 UK or 208 French Canadian control chromosomes, but was detected in 1 of 368 Finnish control chromosomes, indicating that this variant is present in the Finnish population at a low frequency. The family had originally been reported by <a href="#3" class="mim-tip-reference" title="Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. <strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong> Traffic 8: 77-88, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132147">Jaiswal et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20096397+17132147" 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>Among 25 patients, mostly of Finnish descent, with variable muscle disorders due to recessive ANO5 mutations, <a href="#9" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> found that R758C was the most common mutation, occurring in homozygous state in 9 Finnish patients and in heterozygous state with another pathogenic allele (see, e.g., <a href="#0007">608662.0007</a> and <a href="#0008">608662.0008</a>) in 11 patients. The phenotype was highly variable: 2 females who were homozygous for the mutation had no clinical muscle weakness and only hyperCKemia, whereas other women with the mutation had myalgia and/or calf hypertrophy. Men with the mutation showed distal lower limb weakness or proximal upper and lower limb muscle weakness (LGMDR12; <a href="/entry/611307">611307</a>). The findings indicated that this mutation can be associated with a variety of muscle phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281865464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865464;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/rs281865464?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=rs281865464" 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=rs281865464" 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=RCV000032553 OR RCV000032968 OR RCV001091512" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032553, RCV000032968, RCV001091512" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032553...</a>
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<p>In a Finnish man with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; <a href="/entry/611307">611307</a>), <a href="#9" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> identified compound heterozygosity for 2 mutations in the ANO5 gene: a G-to-A transition in intron 14 (1407+5G-A), demonstrated to result in the skipping of exon 14, and 191dupA (<a href="#0004">608662.0004</a>). A Finnish woman with a much milder phenotype had the splice site mutation and R758C (<a href="#0006">608662.0006</a>). She had myalgia, calf hypertrophy, and increased serum creatine kinase, more consistent with a mild form of Miyoshi myopathy-3 (MMD3; <a href="/entry/613319">613319</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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">rs137854528 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854528;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=rs137854528" 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=rs137854528" 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=RCV000032554 OR RCV000128779 OR RCV001383897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032554, RCV000128779, RCV001383897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032554...</a>
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<p>In a man with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; <a href="/entry/611307">611307</a>), <a href="#9" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> identified compound heterozygosity for 2 mutations in the ANO5 gene: a 2-bp deletion in exon 20 (2311delCA), resulting in a frameshift and premature termination (Gln771AlafsTer8) and R758C (<a href="#0006">608662.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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> rs397514736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514736;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/rs397514736?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=rs397514736" 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=rs397514736" 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=RCV000054502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054502</a>
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<p>In affected members of an Italian family with gnathodiaphyseal dysplasia (<a href="/entry/166260">166260</a>), <a href="#7" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> identified a heterozygous c.1538C-T transition in exon 15 of the ANO5 gene, resulting in a thr513-to-ile (T513I) substitution in the second residue of the predicted fourth transmembrane domain. The residue is conserved in many, but not all, mammalian species. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" 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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Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y.
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<strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong>
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Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5816667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B.
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<strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong>
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Am. J. Hum. Genet. 86: 213-221, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[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=20096397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank">Full Text</a>]
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Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R.
|
|
<strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong>
|
|
Traffic 8: 77-88, 2007.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17132147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Jarry2007" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Jarry, J., Rioux, M. F., Bolduc, V., Robitaille, Y., Khoury, V., Thiffault, I., Tetreault, M., Loisel, L., Bouchard, J. P., Brais, B.
|
|
<strong>A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.</strong>
|
|
Brain 130: 368-380, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17008331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17008331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17008331" 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/brain/awl270" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Katoh2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Katoh, M., Katoh, M.
|
|
<strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong>
|
|
Int. J. Oncol. 24: 1345-1349, 2004.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Linssen1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A.
|
|
<strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong>
|
|
Neuromusc. Disord. 8: 317-320, 1998.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9673985" 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/s0960-8966(98)00020-0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Marconi2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M.
|
|
<strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong>
|
|
Europ. J. Hum. Genet. 21: 613-619, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[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=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Mizuta2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mizuta, K., Tsutsumi, S., Inoue, H., Sakamoto, Y., Miyatake, K., Miyawaki, K., Noji, S., Kamata, N., Itakura, M.
|
|
<strong>Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.</strong>
|
|
Biochem. Biophys. Res. Commun. 357: 126-132, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17418107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17418107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17418107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2007.03.108" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Penttila2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B.
|
|
<strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong>
|
|
Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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/10.1212/WNL.0b013e31824c4682" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Tsutsumi2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M.
|
|
<strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong>
|
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Am. J. Hum. Genet. 74: 1255-1261, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[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=15124103" 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/10.1086/421527" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/12/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Cassandra L. Kniffin - updated : 10/23/2012<br>Cassandra L. Kniffin - updated : 3/24/2010<br>Victor A. McKusick - updated : 5/1/2007<br>Victor A. McKusick - updated : 5/26/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz : 5/17/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/05/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/03/2023<br>carol : 09/27/2018<br>carol : 09/26/2018<br>carol : 09/25/2018<br>alopez : 10/04/2016<br>carol : 02/20/2014<br>carol : 10/1/2013<br>carol : 9/3/2013<br>carol : 8/15/2013<br>ckniffin : 8/12/2013<br>carol : 11/5/2012<br>ckniffin : 10/23/2012<br>carol : 3/25/2010<br>ckniffin : 3/24/2010<br>alopez : 5/1/2007<br>terry : 5/1/2007<br>carol : 5/11/2006<br>carol : 6/23/2004<br>alopez : 5/28/2004<br>terry : 5/26/2004<br>mgross : 5/17/2004
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 608662
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
|
ANOCTAMIN 5; ANO5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
TRANSMEMBRANE PROTEIN 16E; TMEM16E<br />
|
|
GDD1 GENE; GDD1
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: ANO5</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 715568002, 726616006, 783166000;
|
|
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|
|
|
<strong>ICD10CM:</strong> G71.035;
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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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<p>
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 11p14.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 11:22,192,473-22,283,357 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
11p14.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Gnathodiaphyseal dysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
166260
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
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|
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</tr>
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|
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|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Miyoshi muscular dystrophy 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613319
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 12
|
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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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611307
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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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<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>Description</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>ANO5 is a member of the anoctamin family of calcium-activated chloride channels (summary by Marconi et al., 2013). </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>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 searching databases for sequences similar to TMEM16A (ANO1; 610108), Katoh and Katoh (2004) identified TMEM16E (ANO5). The deduced 913-amino acid protein contains 8 transmembrane domains. The N and C termini are cytoplasmic, and the extracellular regions contain 6 putative N-glycosylation sites. Katoh and Katoh (2004) also identified a splice variant lacking exon 4. TMEM16E and TMEM16F (ANO6; 608663) share 50.3% amino acid identity. By EST database analysis, Katoh and Katoh (2004) determined that TMEM16E is expressed in testis and pancreatic islet. </p><p>In a search for candidate genes for gnathodiaphyseal dysplasia (GDD; 166260), Tsutsumi et al. (2004) identified a novel gene (ANO5), which they named GDD1, within the GDD critical region on 11p15.1-p14.3. </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>Katoh and Katoh (2004) determined that the TMEM16E gene contains 22 exons and spans more than 88.8 kb. </p><p>Tsutsumi et al. (2004) determined that the TMEM16E gene spans approximately 90 kb of genomic DNA. The initiation and stop codons (ATG and TAA) are present in exons 1 and 22, respectively. </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>Mizuta et al. (2007) studied the molecular and biochemical functions of GDD1 protein. They examined the murine GDD1 gene expression pattern during embryonic development, and characterized the cellular and tissue localizations of its gene product using a GDD1-specific antibody. In the developing embryos, GDD1 mRNA expression was principally associated with differentiating and developing somites, with a highly complex spatiotemporal pattern that involved the myotomal and sclerotomal lineages of somites. Biochemical studies indicated that GDD1 protein is an integral membrane glycoprotein that resides predominantly in intracellular vesicles. Immunohistochemical analysis showed a high level of murine GDD1 protein expression in cardiac and skeletal muscle tissues, and in growth-plate chondrocytes and osteoblasts in bone. The observations suggested that the GDD1 protein has diverse cellular role(s) in the development of the musculoskeletal system. </p><p>In contrast to cells transfected with ANO1, Marconi et al. (2013) found that transfection of ANO5 into HEK293 cells did not result in calcium-activated anionic transport, suggesting that ANO5 does not act as a plasma membrane calcium-activated chloride channel. </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>By genomic sequence analysis, Katoh and Katoh (2004) mapped the TMEM16E gene to chromosome 11p14.3, where it is linked to the NELL1 gene (602319) at chromosome 11p15.1. This locus is paralogous to the NELL2 (602320)-TMEM16F locus on chromosome 12q12. Katoh and Katoh (2004) also mapped the mouse Tmem16e gene to chromosome 7B3. </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><strong><em>Gnathodiaphyseal Dysplasia</em></strong></p><p>
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Tsutsumi et al. (2004) identified heterozygous mutations in the GDD1 gene in patients from 2 families with gnathodiaphyseal dysplasia (GDD; 166260): C356R (608662.0001) in the original Japanese family reported by Akasaka et al. (1969) and C356G (608662.0002) in an African American family. The cysteine residue at amino acid 356 is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggested a role for the gene product in the regulation of intracellular calcium homeostasis. </p><p>Marconi et al. (2013) identified a heterozygous missense mutation in the ANO5 gene (608662.0009) in affected members of an Italian family with gnathodiaphyseal dysplasia. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. </p><p><strong><em>Autosomal Recessive Muscular Dystrophies</em></strong></p><p>
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|
In affected individuals with autosomal recessive limb-girdle muscular dystrophy-12 (LGMDR12; 611307), previously symbolized LGMD2L, Bolduc et al. (2010) identified homozygous or compound heterozygous mutations in the ANO5 gene (608662.0003-608662.0005). The phenotype was characterized by late-onset proximal scapular and pelvic girdle muscle weakness and asymmetrical muscle atrophy. Bolduc et al. (2010) identified a homozygous mutation in the ANO5 gene (608662.0006) in 2 Finnish brothers with late-onset distal Miyoshi muscular dystrophy-3 (MMD3; 613319). One woman with a phenotype overlapping that of LGMD2L and MMD3 was compound heterozygous for 2 mutations (608662.0004-608662.0005). The findings indicated that these 2 disorders are allelic. </p><p>Penttila et al. (2012) found 11 different recessive mutations in the ANO5 gene in 25 (about 25%) of 101 patients with undiagnosed distal calf myopathy or LGMD. Eighteen patients were Finnish, 2 were Spanish, 3 were American of German descent, 1 was Australian, and 1 was Italian. The most common mutation was R758C (608662.0006), homozygous in 9 Finnish patients and heterozygous in 11 patients, followed by 191dupA (608662.0004), which was found in 10 patients. Other mutations (see, e.g., 608662.0007-608662.0008) were private. Although all patients had increased serum creatine kinase, part of the inclusion criteria, the phenotype was variable and there were no genotype/phenotype correlations. Most males had proximal muscle weakness affecting the lower and/or upper limbs, most consistent with LGMD2L, whereas females had milder symptoms such as myalgias, calf hypertrophy, or isolated hyperCKemia in the absence of clinical muscle weakness. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>9 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 GNATHODIAPHYSEAL DYSPLASIA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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ANO5, CYS356ARG
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<br />
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SNP: rs119103234,
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ClinVar: RCV000002244, RCV000128765
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In the Japanese family in which gnathodiaphyseal dysplasia (GDD; 166260) was first described by Akasaka et al. (1969), Tsutsumi et al. (2004) identified heterozygosity for a cys356-to-arg (C356R) mutation caused by a T-to-C transition in exon 11 of the GDD1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 GNATHODIAPHYSEAL DYSPLASIA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ANO5, CYS356GLY
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<br />
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SNP: rs119103234,
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ClinVar: RCV000002245, RCV000128766
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an African American family with gnathodiaphyseal dysplasia (GDD; 166260), Tsutsumi et al. (2004) identified a T-to-G transversion in exon 11 of the GDD1 gene, resulting in a cys356-to-gly (C356G) substitution. A father and son were affected. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ANO5, 1295C-G
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<br />
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|
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SNP: rs137854524,
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gnomAD: rs137854524,
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ClinVar: RCV000002246, RCV000082843, RCV000762831, RCV001851575, RCV003234889, RCV004732524
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated French Canadian families with limb-girdle muscular dystrophy type 2L (LGMDR12; 611307), Bolduc et al. (2010) identified a homozygous 1295C-G transversion in exon 13 of the ANO5 gene, which created a putative splice donor site within exon 13. Amplification and sequencing of patient cDNA confirmed the aberrant splicing of exon 13, resulting in a frameshift and premature termination consistent with a loss of function. One of the families was known to be consanguineous and had been reported by Jarry et al. (2007). Haplotype analysis suggested a founder effect. The mutation was not found in 210 French Canadian or 162 CEPH control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MIYOSHI MUSCULAR DYSTROPHY 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12, INCLUDED
|
|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
ANO5, 1-BP DUP, 191A
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<br />
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SNP: rs137854521,
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ClinVar: RCV000002247, RCV000002248, RCV000082844, RCV000200720, RCV000414931, RCV000627021, RCV000627781, RCV000778317, RCV001196017, RCV001251667, RCV002307353, RCV002476911, RCV003332991
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Bolduc et al. (2010) found homozygosity for a 1-bp duplication (191dupA) in exon 5 of the ANO5 gene in a Dutch family with Miyoshi muscular dystrophy-3 (MMD3; 613319) originally reported by Linssen et al. (1998) as family IV. The 191dupA mutation resulted in a frameshift and premature termination, consistent with a loss of function. It was absent in 210 French Canadian and 152 CEPH control chromosomes, but was identified in 1 of 100 UK and 2 of 210 Dutch control chromosomes. </p><p>In a 63-year-old French Canadian woman with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; 611307) and mild distal limb weakness, Bolduc et al. (2010) identified compound heterozygosity for 191dupA and a 692G-T transversion in exon 8 of the ANO5 gene, resulting in a gly231-to-val substitution (G231V; 608662.0005) in the intracellular N-terminal tail. The patient had late-onset asymmetric proximal upper limb and iliopsoas weakness and distal upper and lower limb weakness, as well as increased serum creatine kinase. Bolduc et al. (2010) noted that the phenotype overlapped between LGMD2L and Miyoshi myopathy. </p><p>Among 25 patients, mostly of Finnish descent, with variable muscle disorders due to recessive ANO5 mutations, Penttila et al. (2012) found that 191dupA was the second most common mutation, occurring in the heterozygous state with another ANO5 mutation in 10 patients. The phenotype was highly variable: female mutation carriers had a mild disorder with myalgia and/or calf hypertrophy and hyperCKemia, whereas men with the mutation showed distal lower limb weakness or proximal upper and lower limb muscle weakness. The findings indicated that this mutation can be associated with a variety of muscle phenotypes. Two Spanish brothers with LGMD2L were compound heterozygous for 191dupA and G231V. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
ANO5, GLY231VAL
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<br />
|
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|
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SNP: rs137854523,
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gnomAD: rs137854523,
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ClinVar: RCV000002249, RCV000082853, RCV000369126, RCV000627782, RCV000762830, RCV000825558, RCV003993729, RCV003993730
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the 692G-T transversion in exon 8 of the ANO5 gene, resulting in a gly231-to-val substitution (G231V) in the intracellular N-terminal tail, that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy type 2L (LGMDR12; 611307) and mild distal limb weakness by Bolduc et al. (2010), see 608662.0004. </p>
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</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MIYOSHI MUSCULAR DYSTROPHY 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
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|
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<div>
|
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<span class="mim-text-font">
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12, INCLUDED
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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ANO5, ARG758CYS
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<br />
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|
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SNP: rs137854529,
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gnomAD: rs137854529,
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ClinVar: RCV000002250, RCV000032966, RCV000128778, RCV000811162, RCV004998071
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 Finnish brothers with Miyoshi muscular dystrophy-3 (MMD3; 613319), Bolduc et al. (2010) identified a homozygous 2272C-T transition in exon 20 of the ANO5 gene, resulting in an arg758-to-cys (R758C) substitution in a conserved residue in an extracellular loop. The R758C variant was not detected in 100 UK or 208 French Canadian control chromosomes, but was detected in 1 of 368 Finnish control chromosomes, indicating that this variant is present in the Finnish population at a low frequency. The family had originally been reported by Jaiswal et al. (2007). </p><p>Among 25 patients, mostly of Finnish descent, with variable muscle disorders due to recessive ANO5 mutations, Penttila et al. (2012) found that R758C was the most common mutation, occurring in homozygous state in 9 Finnish patients and in heterozygous state with another pathogenic allele (see, e.g., 608662.0007 and 608662.0008) in 11 patients. The phenotype was highly variable: 2 females who were homozygous for the mutation had no clinical muscle weakness and only hyperCKemia, whereas other women with the mutation had myalgia and/or calf hypertrophy. Men with the mutation showed distal lower limb weakness or proximal upper and lower limb muscle weakness (LGMDR12; 611307). The findings indicated that this mutation can be associated with a variety of muscle phenotypes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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MIYOSHI MUSCULAR DYSTROPHY 3, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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ANO5, IVS14DS, G-A, +5
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<br />
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SNP: rs281865464,
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gnomAD: rs281865464,
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ClinVar: RCV000032553, RCV000032968, RCV001091512
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Finnish man with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; 611307), Penttila et al. (2012) identified compound heterozygosity for 2 mutations in the ANO5 gene: a G-to-A transition in intron 14 (1407+5G-A), demonstrated to result in the skipping of exon 14, and 191dupA (608662.0004). A Finnish woman with a much milder phenotype had the splice site mutation and R758C (608662.0006). She had myalgia, calf hypertrophy, and increased serum creatine kinase, more consistent with a mild form of Miyoshi myopathy-3 (MMD3; 613319). </p>
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<span class="mim-font">
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<strong>.0008 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12</strong>
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ANO5, 2-BP DEL, 2311CA
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SNP: rs137854528,
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ClinVar: RCV000032554, RCV000128779, RCV001383897
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<p>In a man with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12; 611307), Penttila et al. (2012) identified compound heterozygosity for 2 mutations in the ANO5 gene: a 2-bp deletion in exon 20 (2311delCA), resulting in a frameshift and premature termination (Gln771AlafsTer8) and R758C (608662.0006). </p>
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<span class="mim-font">
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<strong>.0009 GNATHODIAPHYSEAL DYSPLASIA</strong>
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</h4>
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<span class="mim-text-font">
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ANO5, THR513ILE
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SNP: rs397514736,
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gnomAD: rs397514736,
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ClinVar: RCV000054502
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<p>In affected members of an Italian family with gnathodiaphyseal dysplasia (166260), Marconi et al. (2013) identified a heterozygous c.1538C-T transition in exon 15 of the ANO5 gene, resulting in a thr513-to-ile (T513I) substitution in the second residue of the predicted fourth transmembrane domain. The residue is conserved in many, but not all, mammalian species. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y.
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<strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong>
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Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.
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[PubMed: 5816667]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B.
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<strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong>
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Am. J. Hum. Genet. 86: 213-221, 2010.
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[PubMed: 20096397]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.12.013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R.
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<strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong>
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Traffic 8: 77-88, 2007.
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[PubMed: 17132147]
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[Full Text: https://doi.org/10.1111/j.1600-0854.2006.00505.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jarry, J., Rioux, M. F., Bolduc, V., Robitaille, Y., Khoury, V., Thiffault, I., Tetreault, M., Loisel, L., Bouchard, J. P., Brais, B.
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<strong>A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.</strong>
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Brain 130: 368-380, 2007.
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[PubMed: 17008331]
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[Full Text: https://doi.org/10.1093/brain/awl270]
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<li>
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<p class="mim-text-font">
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Katoh, M., Katoh, M.
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<strong>Identification and characterization of TMEM16E and TMEM16F genes in silico.</strong>
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Int. J. Oncol. 24: 1345-1349, 2004.
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[PubMed: 15067359]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A.
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<strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong>
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Neuromusc. Disord. 8: 317-320, 1998.
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[PubMed: 9673985]
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[Full Text: https://doi.org/10.1016/s0960-8966(98)00020-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M.
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<strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong>
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Europ. J. Hum. Genet. 21: 613-619, 2013.
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[PubMed: 23047743]
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[Full Text: https://doi.org/10.1038/ejhg.2012.224]
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<li>
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<p class="mim-text-font">
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Mizuta, K., Tsutsumi, S., Inoue, H., Sakamoto, Y., Miyatake, K., Miyawaki, K., Noji, S., Kamata, N., Itakura, M.
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<strong>Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.</strong>
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Biochem. Biophys. Res. Commun. 357: 126-132, 2007.
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[PubMed: 17418107]
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[Full Text: https://doi.org/10.1016/j.bbrc.2007.03.108]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B.
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|
<strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong>
|
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Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.
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[PubMed: 22402862]
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[Full Text: https://doi.org/10.1212/WNL.0b013e31824c4682]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M.
|
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<strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong>
|
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Am. J. Hum. Genet. 74: 1255-1261, 2004.
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[PubMed: 15124103]
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[Full Text: https://doi.org/10.1086/421527]
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</li>
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</ol>
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Cassandra L. Kniffin - updated : 8/12/2013<br>Cassandra L. Kniffin - updated : 10/23/2012<br>Cassandra L. Kniffin - updated : 3/24/2010<br>Victor A. McKusick - updated : 5/1/2007<br>Victor A. McKusick - updated : 5/26/2004
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Patricia A. Hartz : 5/17/2004
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