3287 lines
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Entry
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- *605226 - ARGININE-GLUTAMIC ACID DIPEPTIDE REPEATS; RERE
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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">*605226</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605226">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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="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=ENSG00000142599;t=ENST00000400908" 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=473" 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=605226" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000142599;t=ENST00000400908" 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_001042681,NM_001042682,NM_012102" 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_001042681" 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=605226" 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=05566&isoform_id=05566_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/RERE" 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/3372354,3411015,4680231,8096340,71891659,85540730,112382216,112382224,112382226,119592004,119592005,119592006,119592007" 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/Q9P2R6" 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=473" 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=ENSG00000142599;t=ENST00000400908" 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=RERE" 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=RERE" 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+473" 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/RERE" 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:473" 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/473" 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=chr1&hgg_gene=ENST00000400908.7&hgg_start=8352404&hgg_end=8817640&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div 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:9965" 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/rere" 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=605226[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=605226[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/RERE/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/ENSG00000142599" 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=RERE" 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=RERE" 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=RERE" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RERE&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/PA34332" 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:9965" 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/FBgn0010825.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:2683486" 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/RERE#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:2683486" 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/473/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=473" 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=WBGene00001194;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-060718-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=RERE&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605226
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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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ARGININE-GLUTAMIC ACID DIPEPTIDE REPEATS; RERE
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ARGININE-GLUTAMIC ACID REPEATS-ENCODING GENE<br />
|
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RE REPEATS-ENCODING GENE<br />
|
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ATROPHIN 1-ASSOCIATED PROTEIN<br />
|
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ATROPHIN-RELATED PROTEIN<br />
|
|
ATROPHIN 2
|
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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=RERE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RERE</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/118?start=-3&limit=10&highlight=118">1p36.23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:8352404-8817640&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'})">1:8,352,404-8,817,640</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/118?start=-3&limit=10&highlight=118">
|
|
1p36.23
|
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</a>
|
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</span>
|
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</td>
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|
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<td>
|
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<span class="mim-font">
|
|
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/616975"> 616975 </a>
|
|
|
|
</span>
|
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</td>
|
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<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>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605226" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605226" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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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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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<p>The RERE gene encodes a nuclear receptor coregulator that positively regulates retinoic acid signaling (summary by <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087320" 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="Yanagisawa, H., Bundo, M., Miyashita, T., Okamura-Oho, Y., Tadokoro, K., Tokunaga, K., Yamada, M. <strong>Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.</strong> Hum. Molec. Genet. 9: 1433-1442, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814707</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814707">Yanagisawa et al. (2000)</a> isolated the RERE gene as one sharing the arginine-glutamic acid (RE) dipeptide repeat motif also present in the DRPLA gene (<a href="/entry/607462">607462</a>), in which expansion of CAG/glutamine repeats cause dentatorubral-pallidoluysian atrophy (DRPLA; <a href="/entry/125370">125370</a>). The RERE gene has an open reading frame of 1,566 amino acids, of which the C-terminal portion has 67% homology to DRPLA, whereas the N-terminal portion is distinctive. RERE also contains arginine-aspartic acid (RD) dipeptide repeats and putative nuclear localization signal sequences, but no polyglutamine tracts. Northern blot analysis detected 2 RERE transcripts: one of 9 kb, expressed exclusively in pancreas and testis; and one of 7 kb, expressed most strongly in skeletal muscle with weaker expression in other tissues tested, including brain. The RERE protein migrated at an apparent molecular weight of 212 kD in SDS-PAGE. An RERE fusion protein localized predominantly in the nucleus. Immunoprecipitation and in vitro binding assays demonstrated that the DRPLA and RERE proteins bind each other, which is facilitated by one of the RE repeats, and that extension of the DRPLA polyglutamine tract enhances the binding. Moreover, when RERE is overexpressed, the distribution of endogenous DRPLA protein alters from a diffuse to a speckled pattern in the nucleus so as to colocalize with RERE. More RERE protein is recruited into nuclear aggregates of the DRPLA protein with extended polyglutamine than into those of pure polyglutamine. The authors suggested a function for the DRPLA protein in the nucleus and the RE repeat in the protein-protein interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814707" 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="#7" class="mim-tip-reference" title="Vilhais-Neto, G. C., Maruhashi, M., Smith, K. T., Vasseur-Cognet, M., Peterson, A. S., Workman, J. L., Pourquie, O. <strong>Rere controls retinoic acid signalling and somite bilateral symmetry.</strong> Nature 463: 953-957, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164929</a>] [<a href="https://doi.org/10.1038/nature08763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164929">Vilhais-Neto et al. (2010)</a> showed that a mutation in Rere leads to the formation of symmetrical somites in mouse embryos, similar to embryos deprived of retinoic acid. Furthermore, <a href="#7" class="mim-tip-reference" title="Vilhais-Neto, G. C., Maruhashi, M., Smith, K. T., Vasseur-Cognet, M., Peterson, A. S., Workman, J. L., Pourquie, O. <strong>Rere controls retinoic acid signalling and somite bilateral symmetry.</strong> Nature 463: 953-957, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164929</a>] [<a href="https://doi.org/10.1038/nature08763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164929">Vilhais-Neto et al. (2010)</a> also demonstrated that Rere controls retinoic acid signaling, which is required to maintain somite symmetry by interacting with Fgf8 (<a href="/entry/600483">600483</a>) in a left-right signaling pathway. Rere forms a complex with Nr2f2 (<a href="/entry/107773">107773</a>), p300 (<a href="/entry/602700">602700</a>), and a retinoic acid receptor, which is recruited to the retinoic acid regulatory element of retinoic acid targets, such as the Rarb (<a href="/entry/180220">180220</a>) promoter. Furthermore, the knockdown of Nr2f2 and/or Rere decreases retinoic acid signaling, suggesting that this complex is required to promote transcriptional activation of retinoic acid targets. The symmetrical expression of Nr2f2 in the presomitic mesoderm overlaps with the symmetry of the retinoic acid signaling response, supporting its implication in the control of somitic symmetry. <a href="#7" class="mim-tip-reference" title="Vilhais-Neto, G. C., Maruhashi, M., Smith, K. T., Vasseur-Cognet, M., Peterson, A. S., Workman, J. L., Pourquie, O. <strong>Rere controls retinoic acid signalling and somite bilateral symmetry.</strong> Nature 463: 953-957, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164929</a>] [<a href="https://doi.org/10.1038/nature08763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164929">Vilhais-Neto et al. (2010)</a> suggested that misregulation of this mechanism could be involved in symmetry defects of the human spine, such as those observed in patients with scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164929" 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 study of a YAC spanning a translocation/duplication breakpoint within the minimally defined loss of heterozygosity region at 1p36.2-p36.1 in a neuroblastoma cell line, <a href="#1" class="mim-tip-reference" title="Amler, L. C., Bauer, A., Corvi, R., Dihlmann, S., Praml, C., Cavenee, W. K., Schwab, M., Hampton, G. M. <strong>Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP.</strong> Genomics 64: 195-202, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729226</a>] [<a href="https://doi.org/10.1006/geno.1999.6097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729226">Amler et al. (2000)</a> identified the RERE gene, which they designated DNB1/ARP (deleted in neuroblastoma-1/atrophin-related protein). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> reported 10 unrelated patients with neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; <a href="/entry/616975">616975</a>) who carried a heterozygous mutation in the RERE gene (see, e.g., <a href="#0001">605226.0001</a>-<a href="#0004">605226.0004</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, occurred de novo in all cases in which parental DNA was available. The mutations clustered throughout the gene and included both missense and truncating mutations; functional studies of the variants and studies of patient cells were not performed. However, <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> noted that mice with Rere mutations showed a similar phenotype (see ANIMAL MODEL). The phenotype was reminiscent of that observed in patients with 1p36 deletion syndrome (<a href="/entry/607872">607872</a>); RERE is located in the proximal 1p36 critical region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087320" 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>Of 9 unrelated patients with NEDBEH, <a href="#4" class="mim-tip-reference" title="Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others. <strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong> Hum. Mutat. 39: 666-675, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>] [<a href="https://doi.org/10.1002/humu.23400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29330883">Jordan et al. (2018)</a> identified heterozygous mutations in the RERE gene (see, e.g., <a href="#0005">605226.0005</a>-<a href="#0006">605226.0006</a>) in 8 and a heterozygous, approximately 317-kb deletion that included exons 1-10 of the RERE gene in 1. The sequence variants, which were found by exome sequencing and confirmed by Sanger sequencing, included missense mutations and 2 small duplications. Parental studies were done in all but the patient with the large deletion, and all of the variants occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29330883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others. <strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong> Hum. Mutat. 39: 666-675, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>] [<a href="https://doi.org/10.1002/humu.23400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29330883">Jordan et al. (2018)</a> reviewed all 19 patients reported with NEDBEH and found that 6 (31%) carried putative loss-of-function variants (partial deletions, nonsense variants and frameshift variants) and 12 (63%) had point mutations in the atrophin-1 domain. A high proportion of the RERE pathogenic variants involved a 21-amino acid histidine-rich region of the atrophin-1 domain (amino acids 1425-1445). The authors noted a genotype/phenotype correlation, with patients with point mutations in the atrophin-1 domain having a more severe presentation than that seen in patients with putative loss-of-function variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29330883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A. <strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong> PLoS One 8: e57460, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23451234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23451234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23451234[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/10.1371/journal.pone.0057460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23451234">Kim et al. (2013)</a> noted that mice homozygous for a null Rere allele died between E9.5 and E11.5 from failure of cardiac looping and subsequent cardiac failure. These embryos also had defects in somitogenesis, fusion of the telencephalic vesicles, defects of the optic vesicles and failure of anterior neural tube closure, and were given the name 'openmind' (om). Studies of these mice indicated that loss of Rere interfered with retinoic acid signaling and embryonic development. <a href="#6" class="mim-tip-reference" title="Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A. <strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong> PLoS One 8: e57460, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23451234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23451234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23451234[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/10.1371/journal.pone.0057460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23451234">Kim et al. (2013)</a> generated an allelic series of Rere-deficient mice using the 'om' allele and a hypomorphic Rere allele, termed 'eyes3' because it resulted in autosomal recessive microphthalmia. Mice compound heterozygous for both mutations had a high level of perinatal mortality, postnatal growth deficiency, brain hypoplasia, decreased numbers of hippocampal neurons, hearing loss, cardiovascular malformations, spontaneous development of cardiac fibrosis in adulthood, and renal agenesis. These findings suggested that Rere plays a critical role in the development and function of multiple organs including the eye, brain, inner ear, heart, and kidney. <a href="#6" class="mim-tip-reference" title="Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A. <strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong> PLoS One 8: e57460, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23451234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23451234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23451234[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/10.1371/journal.pone.0057460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23451234">Kim et al. (2013)</a> suggested that haploinsufficiency of RERE may contribute to the development of many of the phenotypes seen in human patients with 1p36 deletions. In a follow-up report, <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> observed that om/eye3 compound heterozygous mice also had ventriculomegaly and incomplete closure of the optic fissure, suggestive of coloboma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27087320+23451234" 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="#5" class="mim-tip-reference" title="Kim, B. J., Scott, D. A. <strong>Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.</strong> PLoS One 9: e87518, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24466353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24466353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24466353[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/10.1371/journal.pone.0087518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24466353">Kim and Scott (2014)</a> specifically examined cerebellar development in the compound heterozygous Rere hypomorphic mice originally studied by <a href="#6" class="mim-tip-reference" title="Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A. <strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong> PLoS One 8: e57460, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23451234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23451234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23451234[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/10.1371/journal.pone.0057460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23451234">Kim et al. (2013)</a>. Mutant mice showed pre- and postnatal delayed development of the principal fissures in the cerebellum, which was associated with decreased proliferative activity of granule cell precursors and delayed maturation and migration of Purkinje cells. These abnormalities were associated with a decrease in the expression of SHH (<a href="/entry/600725">600725</a>), which is secreted from Purkinje cells and is required for normal proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24466353+23451234" 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605226[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs766951273 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766951273;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/rs766951273?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=rs766951273" 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=rs766951273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 3-year-old boy (patient 1) of European descent with neurodevelopmental disorder with anomalies of the brain, eye, and heart (NEDBEH; <a href="/entry/616975">616975</a>), <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> identified a de novo heterozygous c.3466G-A (c.3466G-A, NM_012102.3) transition in the RERE gene, resulting in a gly1156-to-arg (G1156R) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server database, but was found at a low frequency in the ExAC database (2 of 66,082 European alleles). Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 2-year-old Hispanic boy (patient 3) with neurodevelopmental disorder with anomalies of the brain, eye, and heart (NEDBEH; <a href="/entry/616975">616975</a>), <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> identified a de novo heterozygous c.3785C-G transversion (c.3785C-G, NM_012102.3) transition in the RERE gene, resulting in a pro1262-to-arg (P1262R) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN AND EYE</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">rs869312871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312871;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=rs869312871" 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=rs869312871" 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=RCV000210403 OR RCV000225351 OR RCV000522084 OR RCV001265937" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210403, RCV000225351, RCV000522084, RCV001265937" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210403...</a>
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<p>In a 12-year-old Dutch boy (patient 5) with neurodevelopmental disorder with anomalies of the brain and eye (NEBDEH; <a href="/entry/616975">616975</a>), previously reported by <a href="#2" class="mim-tip-reference" title="Bosch, D. G. M., Boonstra, F. N., de Leeuw, N., Pfundt, R., Nillesen, W. M., de Ligt, J., Gilissen, C., Jhangiani, S., Lupski, J. R., Cremers, F. P. M., de Vries, B. B. A. <strong>Novel genetic causes for cerebral visual impairment.</strong> Europ. J. Hum. Genet. 24: 660-665, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26350515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26350515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26350515[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.2015.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26350515">Bosch et al. (2016)</a> as patient 22, <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> identified a de novo heterozygous c.4293C-A transversion (c.4293C-A, NM_012102.3) in the RERE gene, resulting in a his1431-to-gln (H1431Q) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26350515+27087320" 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">rs878853252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878853252;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=rs878853252" 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=rs878853252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 7-year-old Dutch boy (patient 9) with neurodevelopmental disorder with anomalies of the brain and heart (NEBDEH; <a href="/entry/616975">616975</a>), <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a> identified a de novo heterozygous 22-bp duplication (c.2249_2270dup, NM_012102.3) in the RERE gene, resulting in a frameshift and premature termination (Thr758SerfsTer36). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087320" 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">rs1553154130 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553154130;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=rs1553154130" 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=rs1553154130" 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=RCV000626037 OR RCV003128667" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000626037, RCV003128667" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000626037...</a>
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<p>In a 22-year-old woman (S5) of Japanese and European ancestry with neurodevelopmental disorder with anomalies of the brain and heart (NEDBEH; <a href="/entry/616975">616975</a>), <a href="#4" class="mim-tip-reference" title="Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others. <strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong> Hum. Mutat. 39: 666-675, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>] [<a href="https://doi.org/10.1002/humu.23400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29330883">Jordan et al. (2018)</a> identified heterozygosity for a de novo c.4304A-G transition (c.4304A-G, NM_012102.3) in the RERE gene, resulting in a his1435-to-arg (H1435R) substitution. The variant was not present in the ExAC or gnomAD databases. No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29330883" 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">rs1064793252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064793252;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=rs1064793252" 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=rs1064793252" 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=RCV000481955 OR RCV000578179 OR RCV001034582" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000481955, RCV000578179, RCV001034582" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000481955...</a>
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<p>In 2 unrelated patients, an 8-year-old girl (S7) and a boy (S8) who died at 33 days of age, <a href="#4" class="mim-tip-reference" title="Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others. <strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong> Hum. Mutat. 39: 666-675, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>] [<a href="https://doi.org/10.1002/humu.23400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29330883">Jordan et al. (2018)</a> identified a de novo heterozygous 6-bp duplication (c.4313_4318dupTCCACC, NM_012102.3) in the RERE gene, resulting in duplication of 2 amino acids (Leu1438_His1439dup). The duplication occurs in the atrophin-1 domain of RERE and affects a highly conserved histidine-rich region. The variant was not present in the ExAC or gnomAD databases. No functional studies were reported. Features in the female patient included truncus arteriosus, choanal atresia, chorioretinal and iris coloboma, and progressive sensorineural hearing loss. A temporal bone CT scan showed bilateral cochlear dysplasia. She also has developmental delay, intellectual disability, growth delay, and dysmorphic features. The male patient had dysmorphic features, choanal atresia, atrial septal defect, ventricular septal defect, and a mildly dilated right ventricle. Head ultrasound showed diffuse white matter changes, and brain MRI showed a simplified gyral pattern with unusually large ventricles. The features in these patients fulfilled the diagnostic criteria for CHARGE syndrome (<a href="/entry/214800">214800</a>), but neither patient had a pathogenic variant in the CHD7 gene (<a href="/entry/608892">608892</a>). <a href="#4" class="mim-tip-reference" title="Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others. <strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong> Hum. Mutat. 39: 666-675, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>] [<a href="https://doi.org/10.1002/humu.23400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29330883">Jordan et al. (2018)</a> noted that the same 6-bp duplication had been reported in a patient with NEDBEH by <a href="#3" class="mim-tip-reference" title="Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others. <strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong> Am. J. Hum. Genet. 98: 963-970, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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.2016.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087320">Fregeau et al. (2016)</a>; this patient also met diagnostic criteria for CHARGE syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27087320+29330883" 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>Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP.</strong>
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Genomics 64: 195-202, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1999.6097" target="_blank">Full Text</a>]
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Bosch, D. G. M., Boonstra, F. N., de Leeuw, N., Pfundt, R., Nillesen, W. M., de Ligt, J., Gilissen, C., Jhangiani, S., Lupski, J. R., Cremers, F. P. M., de Vries, B. B. A.
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<strong>Novel genetic causes for cerebral visual impairment.</strong>
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Europ. J. Hum. Genet. 24: 660-665, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26350515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26350515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26350515[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=26350515" 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.2015.186" target="_blank">Full Text</a>]
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Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others.
|
|
<strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong>
|
|
Am. J. Hum. Genet. 98: 963-970, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27087320[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=27087320" 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.2016.03.002" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Jordan2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others.
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<strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong>
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Hum. Mutat. 39: 666-675, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29330883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29330883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29330883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.23400" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Kim2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, B. J., Scott, D. A.
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<strong>Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.</strong>
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PLoS One 9: e87518, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24466353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24466353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24466353[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=24466353" 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/10.1371/journal.pone.0087518" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kim2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A.
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<strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong>
|
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PLoS One 8: e57460, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23451234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23451234</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23451234[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=23451234" 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/10.1371/journal.pone.0057460" target="_blank">Full Text</a>]
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</p>
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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="Vilhais-Neto2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vilhais-Neto, G. C., Maruhashi, M., Smith, K. T., Vasseur-Cognet, M., Peterson, A. S., Workman, J. L., Pourquie, O.
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<strong>Rere controls retinoic acid signalling and somite bilateral symmetry.</strong>
|
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Nature 463: 953-957, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164929" 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/nature08763" 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="Yanagisawa2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yanagisawa, H., Bundo, M., Miyashita, T., Okamura-Oho, Y., Tadokoro, K., Tokunaga, K., Yamada, M.
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<strong>Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.</strong>
|
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Hum. Molec. Genet. 9: 1433-1442, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814707" 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/hmg/9.9.1433" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 04/19/2022
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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 : 6/14/2016<br>Ada Hamosh - updated : 4/22/2010<br>Victor A. McKusick - updated : 3/14/2001
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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="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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George E. Tiller : 8/25/2000
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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 : 04/19/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/15/2021<br>carol : 01/08/2018<br>carol : 06/16/2016<br>carol : 6/16/2016<br>ckniffin : 6/14/2016<br>alopez : 4/23/2010<br>alopez : 4/23/2010<br>terry : 4/22/2010<br>carol : 1/24/2003<br>mcapotos : 3/23/2001<br>mcapotos : 3/22/2001<br>terry : 3/14/2001<br>alopez : 8/25/2000<br>alopez : 8/25/2000<br>alopez : 8/25/2000
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</span>
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605226
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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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ARGININE-GLUTAMIC ACID DIPEPTIDE REPEATS; RERE
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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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<h4>
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<span class="mim-font">
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ARGININE-GLUTAMIC ACID REPEATS-ENCODING GENE<br />
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RE REPEATS-ENCODING GENE<br />
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ATROPHIN 1-ASSOCIATED PROTEIN<br />
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ATROPHIN-RELATED PROTEIN<br />
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ATROPHIN 2
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RERE</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p36.23
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:8,352,404-8,817,640 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p36.23
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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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Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
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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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616975
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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 dominant
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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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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<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>The RERE gene encodes a nuclear receptor coregulator that positively regulates retinoic acid signaling (summary by Fregeau et al., 2016). </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>Yanagisawa et al. (2000) isolated the RERE gene as one sharing the arginine-glutamic acid (RE) dipeptide repeat motif also present in the DRPLA gene (607462), in which expansion of CAG/glutamine repeats cause dentatorubral-pallidoluysian atrophy (DRPLA; 125370). The RERE gene has an open reading frame of 1,566 amino acids, of which the C-terminal portion has 67% homology to DRPLA, whereas the N-terminal portion is distinctive. RERE also contains arginine-aspartic acid (RD) dipeptide repeats and putative nuclear localization signal sequences, but no polyglutamine tracts. Northern blot analysis detected 2 RERE transcripts: one of 9 kb, expressed exclusively in pancreas and testis; and one of 7 kb, expressed most strongly in skeletal muscle with weaker expression in other tissues tested, including brain. The RERE protein migrated at an apparent molecular weight of 212 kD in SDS-PAGE. An RERE fusion protein localized predominantly in the nucleus. Immunoprecipitation and in vitro binding assays demonstrated that the DRPLA and RERE proteins bind each other, which is facilitated by one of the RE repeats, and that extension of the DRPLA polyglutamine tract enhances the binding. Moreover, when RERE is overexpressed, the distribution of endogenous DRPLA protein alters from a diffuse to a speckled pattern in the nucleus so as to colocalize with RERE. More RERE protein is recruited into nuclear aggregates of the DRPLA protein with extended polyglutamine than into those of pure polyglutamine. The authors suggested a function for the DRPLA protein in the nucleus and the RE repeat in the protein-protein interaction. </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>Vilhais-Neto et al. (2010) showed that a mutation in Rere leads to the formation of symmetrical somites in mouse embryos, similar to embryos deprived of retinoic acid. Furthermore, Vilhais-Neto et al. (2010) also demonstrated that Rere controls retinoic acid signaling, which is required to maintain somite symmetry by interacting with Fgf8 (600483) in a left-right signaling pathway. Rere forms a complex with Nr2f2 (107773), p300 (602700), and a retinoic acid receptor, which is recruited to the retinoic acid regulatory element of retinoic acid targets, such as the Rarb (180220) promoter. Furthermore, the knockdown of Nr2f2 and/or Rere decreases retinoic acid signaling, suggesting that this complex is required to promote transcriptional activation of retinoic acid targets. The symmetrical expression of Nr2f2 in the presomitic mesoderm overlaps with the symmetry of the retinoic acid signaling response, supporting its implication in the control of somitic symmetry. Vilhais-Neto et al. (2010) suggested that misregulation of this mechanism could be involved in symmetry defects of the human spine, such as those observed in patients with scoliosis. </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 study of a YAC spanning a translocation/duplication breakpoint within the minimally defined loss of heterozygosity region at 1p36.2-p36.1 in a neuroblastoma cell line, Amler et al. (2000) identified the RERE gene, which they designated DNB1/ARP (deleted in neuroblastoma-1/atrophin-related protein). </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>Fregeau et al. (2016) reported 10 unrelated patients with neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975) who carried a heterozygous mutation in the RERE gene (see, e.g., 605226.0001-605226.0004). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, occurred de novo in all cases in which parental DNA was available. The mutations clustered throughout the gene and included both missense and truncating mutations; functional studies of the variants and studies of patient cells were not performed. However, Fregeau et al. (2016) noted that mice with Rere mutations showed a similar phenotype (see ANIMAL MODEL). The phenotype was reminiscent of that observed in patients with 1p36 deletion syndrome (607872); RERE is located in the proximal 1p36 critical region. </p><p>Of 9 unrelated patients with NEDBEH, Jordan et al. (2018) identified heterozygous mutations in the RERE gene (see, e.g., 605226.0005-605226.0006) in 8 and a heterozygous, approximately 317-kb deletion that included exons 1-10 of the RERE gene in 1. The sequence variants, which were found by exome sequencing and confirmed by Sanger sequencing, included missense mutations and 2 small duplications. Parental studies were done in all but the patient with the large deletion, and all of the variants occurred de novo. </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>Genotype/Phenotype Correlations</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>Jordan et al. (2018) reviewed all 19 patients reported with NEDBEH and found that 6 (31%) carried putative loss-of-function variants (partial deletions, nonsense variants and frameshift variants) and 12 (63%) had point mutations in the atrophin-1 domain. A high proportion of the RERE pathogenic variants involved a 21-amino acid histidine-rich region of the atrophin-1 domain (amino acids 1425-1445). The authors noted a genotype/phenotype correlation, with patients with point mutations in the atrophin-1 domain having a more severe presentation than that seen in patients with putative loss-of-function variants. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kim et al. (2013) noted that mice homozygous for a null Rere allele died between E9.5 and E11.5 from failure of cardiac looping and subsequent cardiac failure. These embryos also had defects in somitogenesis, fusion of the telencephalic vesicles, defects of the optic vesicles and failure of anterior neural tube closure, and were given the name 'openmind' (om). Studies of these mice indicated that loss of Rere interfered with retinoic acid signaling and embryonic development. Kim et al. (2013) generated an allelic series of Rere-deficient mice using the 'om' allele and a hypomorphic Rere allele, termed 'eyes3' because it resulted in autosomal recessive microphthalmia. Mice compound heterozygous for both mutations had a high level of perinatal mortality, postnatal growth deficiency, brain hypoplasia, decreased numbers of hippocampal neurons, hearing loss, cardiovascular malformations, spontaneous development of cardiac fibrosis in adulthood, and renal agenesis. These findings suggested that Rere plays a critical role in the development and function of multiple organs including the eye, brain, inner ear, heart, and kidney. Kim et al. (2013) suggested that haploinsufficiency of RERE may contribute to the development of many of the phenotypes seen in human patients with 1p36 deletions. In a follow-up report, Fregeau et al. (2016) observed that om/eye3 compound heterozygous mice also had ventriculomegaly and incomplete closure of the optic fissure, suggestive of coloboma. </p><p>Kim and Scott (2014) specifically examined cerebellar development in the compound heterozygous Rere hypomorphic mice originally studied by Kim et al. (2013). Mutant mice showed pre- and postnatal delayed development of the principal fissures in the cerebellum, which was associated with decreased proliferative activity of granule cell precursors and delayed maturation and migration of Purkinje cells. These abnormalities were associated with a decrease in the expression of SHH (600725), which is secreted from Purkinje cells and is required for normal proliferation. </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>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN, EYE, AND HEART</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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RERE, GLY1156ARG
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<br />
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SNP: rs766951273,
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gnomAD: rs766951273,
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ClinVar: RCV000225156
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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 3-year-old boy (patient 1) of European descent with neurodevelopmental disorder with anomalies of the brain, eye, and heart (NEDBEH; 616975), Fregeau et al. (2016) identified a de novo heterozygous c.3466G-A (c.3466G-A, NM_012102.3) transition in the RERE gene, resulting in a gly1156-to-arg (G1156R) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server database, but was found at a low frequency in the ExAC database (2 of 66,082 European alleles). Functional studies of the variant and studies of patient cells were not performed. </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 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN, EYE, AND HEART</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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RERE, PRO1262ARG
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<br />
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SNP: rs878853270,
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ClinVar: RCV000225240, RCV000421248
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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 a 2-year-old Hispanic boy (patient 3) with neurodevelopmental disorder with anomalies of the brain, eye, and heart (NEDBEH; 616975), Fregeau et al. (2016) identified a de novo heterozygous c.3785C-G transversion (c.3785C-G, NM_012102.3) transition in the RERE gene, resulting in a pro1262-to-arg (P1262R) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </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 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN AND EYE</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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RERE, HIS1431GLN
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<br />
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SNP: rs869312871,
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ClinVar: RCV000210403, RCV000225351, RCV000522084, RCV001265937
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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 a 12-year-old Dutch boy (patient 5) with neurodevelopmental disorder with anomalies of the brain and eye (NEBDEH; 616975), previously reported by Bosch et al. (2016) as patient 22, Fregeau et al. (2016) identified a de novo heterozygous c.4293C-A transversion (c.4293C-A, NM_012102.3) in the RERE gene, resulting in a his1431-to-gln (H1431Q) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN AND HEART</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RERE, 22-BP DUP, NT2249
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|
|
<br />
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|
|
SNP: rs878853252,
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|
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|
|
|
|
|
ClinVar: RCV000225146
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Dutch boy (patient 9) with neurodevelopmental disorder with anomalies of the brain and heart (NEBDEH; 616975), Fregeau et al. (2016) identified a de novo heterozygous 22-bp duplication (c.2249_2270dup, NM_012102.3) in the RERE gene, resulting in a frameshift and premature termination (Thr758SerfsTer36). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the Exome Variant Server or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN AND HEART</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RERE, HIS1435ARG
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|
|
|
|
<br />
|
|
|
|
SNP: rs1553154130,
|
|
|
|
|
|
|
|
ClinVar: RCV000626037, RCV003128667
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old woman (S5) of Japanese and European ancestry with neurodevelopmental disorder with anomalies of the brain and heart (NEDBEH; 616975), Jordan et al. (2018) identified heterozygosity for a de novo c.4304A-G transition (c.4304A-G, NM_012102.3) in the RERE gene, resulting in a his1435-to-arg (H1435R) substitution. The variant was not present in the ExAC or gnomAD databases. No functional studies were reported. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NEURODEVELOPMENTAL DISORDER WITH ANOMALIES OF THE BRAIN AND HEART</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RERE, 6-BP DUP, NT4313
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1064793252,
|
|
|
|
|
|
|
|
ClinVar: RCV000481955, RCV000578179, RCV001034582
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients, an 8-year-old girl (S7) and a boy (S8) who died at 33 days of age, Jordan et al. (2018) identified a de novo heterozygous 6-bp duplication (c.4313_4318dupTCCACC, NM_012102.3) in the RERE gene, resulting in duplication of 2 amino acids (Leu1438_His1439dup). The duplication occurs in the atrophin-1 domain of RERE and affects a highly conserved histidine-rich region. The variant was not present in the ExAC or gnomAD databases. No functional studies were reported. Features in the female patient included truncus arteriosus, choanal atresia, chorioretinal and iris coloboma, and progressive sensorineural hearing loss. A temporal bone CT scan showed bilateral cochlear dysplasia. She also has developmental delay, intellectual disability, growth delay, and dysmorphic features. The male patient had dysmorphic features, choanal atresia, atrial septal defect, ventricular septal defect, and a mildly dilated right ventricle. Head ultrasound showed diffuse white matter changes, and brain MRI showed a simplified gyral pattern with unusually large ventricles. The features in these patients fulfilled the diagnostic criteria for CHARGE syndrome (214800), but neither patient had a pathogenic variant in the CHD7 gene (608892). Jordan et al. (2018) noted that the same 6-bp duplication had been reported in a patient with NEDBEH by Fregeau et al. (2016); this patient also met diagnostic criteria for CHARGE syndrome. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
<div>
|
|
<ol>
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<li>
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<p class="mim-text-font">
|
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Amler, L. C., Bauer, A., Corvi, R., Dihlmann, S., Praml, C., Cavenee, W. K., Schwab, M., Hampton, G. M.
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|
<strong>Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP.</strong>
|
|
Genomics 64: 195-202, 2000.
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[PubMed: 10729226]
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[Full Text: https://doi.org/10.1006/geno.1999.6097]
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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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Bosch, D. G. M., Boonstra, F. N., de Leeuw, N., Pfundt, R., Nillesen, W. M., de Ligt, J., Gilissen, C., Jhangiani, S., Lupski, J. R., Cremers, F. P. M., de Vries, B. B. A.
|
|
<strong>Novel genetic causes for cerebral visual impairment.</strong>
|
|
Europ. J. Hum. Genet. 24: 660-665, 2016.
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[PubMed: 26350515]
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[Full Text: https://doi.org/10.1038/ejhg.2015.186]
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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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Fregeau, B., Kim, B. J., Hernandez-Garcia, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E., Zackai, E. H., Sacharow, S., and 14 others.
|
|
<strong>De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.</strong>
|
|
Am. J. Hum. Genet. 98: 963-970, 2016.
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[PubMed: 27087320]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.03.002]
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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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Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., and 19 others.
|
|
<strong>Genotype-phenotype correlations in individuals with pathogenic RERE variants.</strong>
|
|
Hum. Mutat. 39: 666-675, 2018.
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[PubMed: 29330883]
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[Full Text: https://doi.org/10.1002/humu.23400]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kim, B. J., Scott, D. A.
|
|
<strong>Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.</strong>
|
|
PLoS One 9: e87518, 2014. Note: Electronic Article.
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[PubMed: 24466353]
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[Full Text: https://doi.org/10.1371/journal.pone.0087518]
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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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Kim, B. J., Zaveri, H. P., Shchelochkov, O. A., Yu, Z., Hernandez-Garcia, A., Seymour, M. L., Oghalai, J. S., Pereira, F. A., Stockton, D. W., Justice, M. J., Lee, B., Scott, D. A.
|
|
<strong>An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.</strong>
|
|
PLoS One 8: e57460, 2013. Note: Electronic Article.
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[PubMed: 23451234]
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[Full Text: https://doi.org/10.1371/journal.pone.0057460]
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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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Vilhais-Neto, G. C., Maruhashi, M., Smith, K. T., Vasseur-Cognet, M., Peterson, A. S., Workman, J. L., Pourquie, O.
|
|
<strong>Rere controls retinoic acid signalling and somite bilateral symmetry.</strong>
|
|
Nature 463: 953-957, 2010.
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|
[PubMed: 20164929]
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[Full Text: https://doi.org/10.1038/nature08763]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Yanagisawa, H., Bundo, M., Miyashita, T., Okamura-Oho, Y., Tadokoro, K., Tokunaga, K., Yamada, M.
|
|
<strong>Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.</strong>
|
|
Hum. Molec. Genet. 9: 1433-1442, 2000.
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[PubMed: 10814707]
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[Full Text: https://doi.org/10.1093/hmg/9.9.1433]
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Sonja A. Rasmussen - updated : 04/19/2022<br>Cassandra L. Kniffin - updated : 6/14/2016<br>Ada Hamosh - updated : 4/22/2010<br>Victor A. McKusick - updated : 3/14/2001
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George E. Tiller : 8/25/2000
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