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Entry
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- *300206 - INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
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- OMIM
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<p>
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<span class="h4">*300206</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300206">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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<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=ENSG00000169306;t=ENST00000378993" 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=11141" 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=300206" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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 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=ENSG00000169306;t=ENST00000378993" 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_014271,XM_017029240,XM_017029241" 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_014271" 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=300206" 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=02193&isoform_id=02193_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/IL1RAPL1" 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/5911830,7321329,7657232,10644688,33352642,33352644,33352646,33352648,33352650,33352652,33352654,33352656,33352658,33352660,33352662,33352664,33352666,33352668,33352670,33352672,33352674,33352676,33352678,33352680,33354071,34222654,116497037,116497193,119619452,608785349,1034673431,1034673433,1465475848,2462628100,2462628102" 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/Q9NZN1" 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=11141" 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=ENSG00000169306;t=ENST00000378993" 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=IL1RAPL1" 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=IL1RAPL1" 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+11141" 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/IL1RAPL1" 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:11141" 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/11141" 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=chrX&hgg_gene=ENST00000378993.6&hgg_start=28587446&hgg_end=29956718&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/gene-dosage/HGNC:5996" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:5996" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300206[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 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=300206[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/IL1RAPL1/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/ENSG00000169306" 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=IL1RAPL1" 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=IL1RAPL1" 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=IL1RAPL1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://databases.lovd.nl/shared/genes/IL1RAPL1" title="LOVD 3.0 shared installation (IL1RAPL1)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">LOVD 3.0 shared installati…</a></div><div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/IL1RAPL1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">IL1RAPL1 database at LOVD</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IL1RAPL1&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/PA29812" 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:5996" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2687319" 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/IL1RAPL1#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:2687319" 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/11141/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=11141" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061013-249" 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=IL1RAPL1&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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300206
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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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INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
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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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INTERLEUKIN 1 RECEPTOR 8; IL1R8
|
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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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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IL1RAPL1/DMD FUSION GENE, INCLUDED
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</span>
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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=IL1RAPL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IL1RAPL1</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/X/137?start=-3&limit=10&highlight=137">Xp21.3-p21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:28587446-29956718&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'})">X:28,587,446-29,956,718</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>
|
|
<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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/137?start=-3&limit=10&highlight=137">
|
|
Xp21.3-p21.2
|
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</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, X-linked 21
|
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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/300143"> 300143 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300206" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300206" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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<p>The IL1RAPL1 gene encodes a protein with high levels of expression in brain neurons. It participates in the regulation of neurite outgrowth and exocytosis via its interaction with neuronal calcium sensors and the downregulation of calcium channels (<a href="#1" class="mim-tip-reference" title="Bahi, N., Friocourt, G., Carrie, A., Graham, M. E., Weiss, J. L., Chafey, P., Fauchereau, F., Burgoyne, R. D., Chelly, J. <strong>IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis.</strong> Hum. Molec. Genet. 12: 1415-1425, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12783849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12783849</a>] [<a href="https://doi.org/10.1093/hmg/ddg147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12783849">Bahi et al., 2003</a>; <a href="#5" class="mim-tip-reference" title="Gambino, F., Pavlowsky, A., Begle, A., Dupont, J.-L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B., Chelly, J., Vitale, N., Humeau, Y. <strong>IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca(2+)-channel and neurite elongation.</strong> Proc. Nat. Acad. Sci. 104: 9063-9068, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17502602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17502602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17502602[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0701133104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17502602">Gambino et al., 2007</a>). These actions appear to regulate synaptic formation and modulation of synaptic transmission (<a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12783849+17502602+18801879" 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="Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S., Hamel, B., Moraine, C., and 10 others. <strong>A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.</strong> Nature Genet. 23: 25-31, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471494</a>] [<a href="https://doi.org/10.1038/12623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471494">Carrie et al. (1999)</a> demonstrated the importance of interleukin signaling pathways in cognitive function and the normal physiology of the central nervous system. Thorough investigation of a critical region for X-linked mental retardation in Xp22.1-p21.3, they identified a gene, IL1RAPL1, expressed in brain that is responsible for a nonspecific form of X-linked mental retardation (XLID21; <a href="/entry/300143">300143</a>), which they called MRX34. The IL1RAPL1 gene encodes a 696-amino acid protein that has homology to IL1RAP (<a href="/entry/602626">602626</a>). <a href="#3" class="mim-tip-reference" title="Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S., Hamel, B., Moraine, C., and 10 others. <strong>A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.</strong> Nature Genet. 23: 25-31, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471494</a>] [<a href="https://doi.org/10.1038/12623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471494">Carrie et al. (1999)</a> found highest Il1rapl1 expression in developing and postnatal mouse hippocampus. Its high level of expression in postnatal brain structures involved in the hippocampal memory system suggested a specialized role for IL1RAPL1 in the physiologic processes underlying memory and learning abilities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., Roberts, R. G. <strong>Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.</strong> Europ. J. Hum. Genet. 8: 87-94, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757639</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757639">Jin et al. (2000)</a> found that IL1RAPL1 shares 65% identity with IL1RAPL2 (<a href="/entry/300277">300277</a>) and that both proteins have novel C-terminal sequences not present in other related proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10757639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> found Il1rapl1 expression in the cell bodies and growth cones of short, dendrite-like processes in rat hippocampal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" 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="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> noted that the IL1RAPL1 gene contains 11 exons spanning 1.37 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bahi, N., Friocourt, G., Carrie, A., Graham, M. E., Weiss, J. L., Chafey, P., Fauchereau, F., Burgoyne, R. D., Chelly, J. <strong>IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis.</strong> Hum. Molec. Genet. 12: 1415-1425, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12783849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12783849</a>] [<a href="https://doi.org/10.1093/hmg/ddg147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12783849">Bahi et al. (2003)</a> assessed the effect of recombinant IL1RAPL on the binding affinity of type I IL1R (<a href="/entry/147810">147810</a>) for its ligands IL1-alpha (<a href="/entry/147760">147760</a>) and -beta (<a href="/entry/147720">147720</a>) and searched for proteins interacting with the specific C-terminal domain of IL1RAPL. The authors concluded that IL1RAPL is not a protein receptor for IL1, but interacts with neuronal calcium sensor-1, NCS1 (FREQ; <a href="/entry/603315">603315</a>), through its specific C-terminal domain. The functional relevance of IL1RAPL activity was further supported by the inhibitory effect on exocytosis in PC12 cells overexpressing IL1RAPL. The authors suggested that IL1RAPL may regulate calcium-dependent exocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12783849" 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="Gambino, F., Pavlowsky, A., Begle, A., Dupont, J.-L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B., Chelly, J., Vitale, N., Humeau, Y. <strong>IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca(2+)-channel and neurite elongation.</strong> Proc. Nat. Acad. Sci. 104: 9063-9068, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17502602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17502602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17502602[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0701133104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17502602">Gambino et al. (2007)</a> found that stable expression of Il1rapl1 in PC12 cells induced specific silencing of N-type voltage-gated calcium channels (see CACNA1B; <a href="/entry/601012">601012</a>) via interaction with Ncs1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17502602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> found that miRNA knockdown of the Il1rapl1 gene in rat hippocampal cells resulted in an increase in the number and length of dendrites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" 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>During the investigation of 3 brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy (<a href="/entry/300376">300376</a>), glycerol kinase deficiency, congenital adrenal hypoplasia, and mental retardation, <a href="#6" class="mim-tip-reference" title="Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., Roberts, R. G. <strong>Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.</strong> Europ. J. Hum. Genet. 8: 87-94, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757639</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757639">Jin et al. (2000)</a> found that the dystrophin gene (<a href="/entry/300377">300377</a>) was fused tail-to-tail with the IL1RAPL1 gene. The deletion in these patients removed 3 exons encoding the intracellular signaling domain of IL1RAPL1. <a href="#6" class="mim-tip-reference" title="Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., Roberts, R. G. <strong>Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.</strong> Europ. J. Hum. Genet. 8: 87-94, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757639</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757639">Jin et al. (2000)</a> suggested that molecules resembling IL1 (see <a href="/entry/147720">147720</a>) and IL18 (see <a href="/entry/600953">600953</a>) play a role in the development or function of the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10757639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-year-old boy with mental retardation, <a href="#8" class="mim-tip-reference" title="Lepretre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C. <strong>Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.</strong> Cytogenet. Genome Res. 101: 124-129, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14610352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14610352</a>] [<a href="https://doi.org/10.1159/000074167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14610352">Lepretre et al. (2003)</a> identified an X chromosome inversion, inv(X)(p21.3q27.1). A similar chromosomal rearrangement was detected in his mildly mentally retarded mother. FISH, using a panel of ordered YAC clones, allowed the identification of YACs spanning both the Xp21.3 and Xq27.1 breakpoints, where many nonspecific mental retardation loci had been reported. Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the inversion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14610352" 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="#2" class="mim-tip-reference" title="Bhat, S. S., Ladd, S., Grass, F., Spence, J. E., Brasington, C. K., Simensen, R. J., Schwartz, C. E., DuPont, B. R., Stevenson, R. E., Srivastava, A. K. <strong>Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. (Letter)</strong> Clin. Genet. 73: 94-96, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005360</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00920.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18005360">Bhat et al. (2008)</a> reported a 7-year-old boy with developmental delay, features of autism, facial dysmorphism, and a pericentromeric inversion disrupting the IL1RAPL1 gene: inv(X)(p22.1q13). His mother, who also carried the inversion, had mild mental retardation and autism. She had also experienced a severe CNS infection as an infant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005360" 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 affected males from 2 unrelated families with nonspecific X-linked intellectual developmental disorder (XLID21; <a href="/entry/300143">300143</a>), <a href="#3" class="mim-tip-reference" title="Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S., Hamel, B., Moraine, C., and 10 others. <strong>A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.</strong> Nature Genet. 23: 25-31, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471494</a>] [<a href="https://doi.org/10.1038/12623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471494">Carrie et al. (1999)</a> and <a href="#11" class="mim-tip-reference" title="Tabolacci, E., Pomponi, M. G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G. <strong>A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.</strong> Am. J. Med. Genet. 140A: 482-487, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470793</a>] [<a href="https://doi.org/10.1002/ajmg.a.31107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470793">Tabolacci et al. (2006)</a> identified mutations in the IL1RAPL1 gene (<a href="#0001">300206.0001</a> and <a href="#0002">300206.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10471494+16470793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 affected males in a family segregating nonspecific X-linked intellectual developmental disorder showing linkage to Xp22.11-p21.2 (between markers DXS1226 and DXS1061), <a href="#9" class="mim-tip-reference" title="Nawara, M., Klapecki, J., Borg, K., Jurek, M., Moreno, S., Tryfon, J., Bal, J., Chelly, J., Mazurczak, T. <strong>Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.</strong> Am. J. Med. Genet. 146A: 3167-3172, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012350</a>] [<a href="https://doi.org/10.1002/ajmg.a.32613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19012350">Nawara et al. (2008)</a> identified a deletion of exons 2, 3, 4, and 5 in the IL1RAPL1 gene (<a href="#0003">300206.0003</a>). The deletion was also identified in 3 obligatory female carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19012350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 brothers with variable severity of cognitive impairment, ranging from impaired intellectual development to autistic features, <a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> identified a hemizygous 730-kb deletion in the IL1RAPL1 gene (<a href="#0004">300206.0004</a>). The deletion was identified by whole-genome search of copy number variants using comparative genomic hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a French Canadian girl with high functioning autism consistent with Asperger syndrome (see <a href="/entry/300143">300143</a>) and no impaired intellectual development, <a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> identified a heterozygous de novo 7-bp deletion (1730delTACTCTT) in exon 9 of the IL1RAPL1 gene, resulting in a frameshift and premature termination. The truncated protein was predicted to lack part of the transmembrane domain as well as the entire cytoplasmic domain. The mutation was not found in 276 control chromosomes. Although in vitro studies in rat hippocampal cells indicated that the deletion resulted in a loss of function, transfection of the truncated mutant alone did not affect neurite outgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Franek, K. J., Butler, J., Johnson, J., Simensen, R., Friez, M. J., Bartel, F., Moss, T., DuPont, B., Berry, K., Bauman, M., Skinner, C., Stevenson, R. E., Schwartz, C. E. <strong>Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.</strong> Am. J. Med. Genet. 155A: 1109-1114, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484992</a>] [<a href="https://doi.org/10.1002/ajmg.a.33833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484992">Franek et al. (2011)</a> identified a 635-kb deletion spanning exons 2-5 in the IL1RAPL1 gene (see <a href="#0003">300206.0003</a>) in 3 males from a family with X-linked impaired development, although exact deletion breakpoints were not mapped. Two affected males from a second family had a deletion of exons 1-5 of the IL1RAPL1 gene, which was inherited from their unaffected mother. <a href="#4" class="mim-tip-reference" title="Franek, K. J., Butler, J., Johnson, J., Simensen, R., Friez, M. J., Bartel, F., Moss, T., DuPont, B., Berry, K., Bauman, M., Skinner, C., Stevenson, R. E., Schwartz, C. E. <strong>Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.</strong> Am. J. Med. Genet. 155A: 1109-1114, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484992</a>] [<a href="https://doi.org/10.1002/ajmg.a.33833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484992">Franek et al. (2011)</a> concluded that loss of function of the IL1RAPL1 protein is associated with intellectual disability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484992" 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 4 affected males from a family with nonspecific X-linked intellectual developmental disorder (XLID21; <a href="/entry/300143">300143</a>), <a href="#11" class="mim-tip-reference" title="Tabolacci, E., Pomponi, M. G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G. <strong>A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.</strong> Am. J. Med. Genet. 140A: 482-487, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470793</a>] [<a href="https://doi.org/10.1002/ajmg.a.31107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470793">Tabolacci et al. (2006)</a> identified a 1460G-A transition in exon 10 of the IL1RAPL1 gene, resulting in a trp487-to-ter (W487X) substitution. The family was originally reported by <a href="#7" class="mim-tip-reference" title="Kozak, L., Chiurazzi, P., Genuardi, M., Pomponi, M. G., Zollino, M., Neri, G. <strong>Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.3-Xp22.1.</strong> J. Med. Genet. 30: 866-869, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230164</a>] [<a href="https://doi.org/10.1136/jmg.30.10.866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8230164">Kozak et al. (1993)</a> and designated MRX21. The mutation was predicted to result in a truncated protein lacking half of the intracellular TIR domain and the entire C-terminal domain. Two female mutation carriers demonstrated learning disabilities, although blood leukocytes showed X-inactivation patterns favoring the wildtype allele. <a href="#11" class="mim-tip-reference" title="Tabolacci, E., Pomponi, M. G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G. <strong>A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.</strong> Am. J. Med. Genet. 140A: 482-487, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470793</a>] [<a href="https://doi.org/10.1002/ajmg.a.31107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470793">Tabolacci et al. (2006)</a> suggested that brain neurons may show different X-inactivation patterns. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16470793+8230164" 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012237" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012237" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012237</a>
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<p>In 4 affected males in a family segregating nonspecific X-linked intellectual developmental disorder (XLID21; <a href="/entry/300143">300143</a>), <a href="#9" class="mim-tip-reference" title="Nawara, M., Klapecki, J., Borg, K., Jurek, M., Moreno, S., Tryfon, J., Bal, J., Chelly, J., Mazurczak, T. <strong>Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.</strong> Am. J. Med. Genet. 146A: 3167-3172, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012350</a>] [<a href="https://doi.org/10.1002/ajmg.a.32613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19012350">Nawara et al. (2008)</a> identified a deletion of exons 2, 3, 4, and 5 in the IL1RAPL1 gene. The deletion was also identified in 3 obligatory female carriers, all of whom were apparently of normal intelligence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19012350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Franek, K. J., Butler, J., Johnson, J., Simensen, R., Friez, M. J., Bartel, F., Moss, T., DuPont, B., Berry, K., Bauman, M., Skinner, C., Stevenson, R. E., Schwartz, C. E. <strong>Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.</strong> Am. J. Med. Genet. 155A: 1109-1114, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484992</a>] [<a href="https://doi.org/10.1002/ajmg.a.33833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484992">Franek et al. (2011)</a> reported a family in which 3 males had low IQ and other variable features, including hypotonia (2), pectus excavatum (2), prominent jaw (2), synophrys (2), and hyperextensible joints (2). Two had behavioral abnormalities, including impulsivity, oppositional disorder, and hyperactivity. One had pigmentary skin changes. Genetic analysis identified a 635-kb deletion spanning exons 2-5 in the IL1RAPL1 gene, similar to that reported by <a href="#9" class="mim-tip-reference" title="Nawara, M., Klapecki, J., Borg, K., Jurek, M., Moreno, S., Tryfon, J., Bal, J., Chelly, J., Mazurczak, T. <strong>Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.</strong> Am. J. Med. Genet. 146A: 3167-3172, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012350</a>] [<a href="https://doi.org/10.1002/ajmg.a.32613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19012350">Nawara et al. (2008)</a>, although exact deletion breakpoints were not mapped. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19012350+21484992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</strong>
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IL1RAPL1, 730-KB DEL, EX3-7
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022836" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022836" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022836</a>
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<p>In a boy with intellectual developmental disorder (XLID21; <a href="/entry/300143">300143</a>), <a href="#10" class="mim-tip-reference" title="Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A. <strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong> Hum. Molec. Genet. 17: 3965-3974, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>] [<a href="https://doi.org/10.1093/hmg/ddn300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18801879">Piton et al. (2008)</a> identified a 730-kb deletion in the IL1RAPL1 gene, resulting in the deletion of exons 3 through 7 and causing premature termination. The deletion was also found in the patient's 2 brothers who had a less severe cognitive phenotype: one had pervasive developmental disorder, not otherwise specified (PDDNOS), and the other had mildly impaired intellectual development with repetitive behaviors, but no other signs of autism. The mother carried the 730-kb deletion but did not show any cognitive or behavioral abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Bahi, N., Friocourt, G., Carrie, A., Graham, M. E., Weiss, J. L., Chafey, P., Fauchereau, F., Burgoyne, R. D., Chelly, J.
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<strong>IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis.</strong>
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Hum. Molec. Genet. 12: 1415-1425, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12783849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12783849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12783849" 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/ddg147" target="_blank">Full Text</a>]
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Bhat, S. S., Ladd, S., Grass, F., Spence, J. E., Brasington, C. K., Simensen, R. J., Schwartz, C. E., DuPont, B. R., Stevenson, R. E., Srivastava, A. K.
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<strong>Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. (Letter)</strong>
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Clin. Genet. 73: 94-96, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00920.x" target="_blank">Full Text</a>]
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Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S., Hamel, B., Moraine, C., and 10 others.
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<strong>A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.</strong>
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Nature Genet. 23: 25-31, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471494" 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/10.1038/12623" target="_blank">Full Text</a>]
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Franek, K. J., Butler, J., Johnson, J., Simensen, R., Friez, M. J., Bartel, F., Moss, T., DuPont, B., Berry, K., Bauman, M., Skinner, C., Stevenson, R. E., Schwartz, C. E.
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<strong>Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.</strong>
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Am. J. Med. Genet. 155A: 1109-1114, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33833" target="_blank">Full Text</a>]
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Gambino, F., Pavlowsky, A., Begle, A., Dupont, J.-L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B., Chelly, J., Vitale, N., Humeau, Y.
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<strong>IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca(2+)-channel and neurite elongation.</strong>
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Proc. Nat. Acad. Sci. 104: 9063-9068, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17502602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17502602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17502602[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=17502602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0701133104" target="_blank">Full Text</a>]
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Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., Roberts, R. G.
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<strong>Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.</strong>
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Europ. J. Hum. Genet. 8: 87-94, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10757639" 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/sj.ejhg.5200415" target="_blank">Full Text</a>]
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Kozak, L., Chiurazzi, P., Genuardi, M., Pomponi, M. G., Zollino, M., Neri, G.
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<strong>Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.3-Xp22.1.</strong>
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J. Med. Genet. 30: 866-869, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8230164" 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/10.1136/jmg.30.10.866" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Lepretre2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lepretre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C.
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<strong>Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.</strong>
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Cytogenet. Genome Res. 101: 124-129, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14610352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14610352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14610352" 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/10.1159/000074167" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Nawara2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nawara, M., Klapecki, J., Borg, K., Jurek, M., Moreno, S., Tryfon, J., Bal, J., Chelly, J., Mazurczak, T.
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<strong>Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.</strong>
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Am. J. Med. Genet. 146A: 3167-3172, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19012350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32613" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Piton2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A.
|
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<strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong>
|
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Hum. Molec. Genet. 17: 3965-3974, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18801879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18801879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18801879" 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/ddn300" 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="11" class="mim-anchor"></a>
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<a id="Tabolacci2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tabolacci, E., Pomponi, M. G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G.
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<strong>A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.</strong>
|
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Am. J. Med. Genet. 140A: 482-487, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31107" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/21/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/4/2011<br>Nara Sobreira - updated : 9/4/2009<br>Cassandra L. Kniffin - updated : 3/17/2008<br>Patricia A. Hartz - updated : 1/16/2008<br>Cassandra L. Kniffin - updated : 3/21/2006<br>George E. Tiller - updated : 3/21/2005<br>Victor A. McKusick - updated : 12/8/2003<br>Victor A. McKusick - updated : 10/30/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/30/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/02/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/19/2016<br>carol : 09/12/2013<br>carol : 9/22/2011<br>ckniffin : 9/21/2011<br>wwang : 4/11/2011<br>ckniffin : 4/4/2011<br>carol : 9/8/2009<br>terry : 9/4/2009<br>wwang : 3/18/2008<br>ckniffin : 3/17/2008<br>mgross : 1/25/2008<br>terry : 1/16/2008<br>wwang : 3/23/2006<br>ckniffin : 3/21/2006<br>alopez : 3/21/2005<br>tkritzer : 12/10/2003<br>terry : 12/8/2003<br>carol : 4/3/2003<br>alopez : 3/26/2003<br>alopez : 3/26/2003<br>cwells : 3/13/2002<br>mgross : 12/11/2000<br>carol : 10/31/2000<br>terry : 10/30/2000<br>alopez : 2/1/2000<br>alopez : 11/23/1999<br>alopez : 8/31/1999<br>alopez : 8/30/1999<br>alopez : 8/30/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300206
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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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INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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INTERLEUKIN 1 RECEPTOR 8; IL1R8
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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IL1RAPL1/DMD FUSION GENE, INCLUDED
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</span>
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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: IL1RAPL1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: Xp21.3-p21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:28,587,446-29,956,718 </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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<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-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">
|
|
Xp21.3-p21.2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Intellectual developmental disorder, X-linked 21
|
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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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300143
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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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X-linked recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The IL1RAPL1 gene encodes a protein with high levels of expression in brain neurons. It participates in the regulation of neurite outgrowth and exocytosis via its interaction with neuronal calcium sensors and the downregulation of calcium channels (Bahi et al., 2003; Gambino et al., 2007). These actions appear to regulate synaptic formation and modulation of synaptic transmission (Piton et al., 2008). </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>Carrie et al. (1999) demonstrated the importance of interleukin signaling pathways in cognitive function and the normal physiology of the central nervous system. Thorough investigation of a critical region for X-linked mental retardation in Xp22.1-p21.3, they identified a gene, IL1RAPL1, expressed in brain that is responsible for a nonspecific form of X-linked mental retardation (XLID21; 300143), which they called MRX34. The IL1RAPL1 gene encodes a 696-amino acid protein that has homology to IL1RAP (602626). Carrie et al. (1999) found highest Il1rapl1 expression in developing and postnatal mouse hippocampus. Its high level of expression in postnatal brain structures involved in the hippocampal memory system suggested a specialized role for IL1RAPL1 in the physiologic processes underlying memory and learning abilities. </p><p>Jin et al. (2000) found that IL1RAPL1 shares 65% identity with IL1RAPL2 (300277) and that both proteins have novel C-terminal sequences not present in other related proteins. </p><p>Piton et al. (2008) found Il1rapl1 expression in the cell bodies and growth cones of short, dendrite-like processes in rat hippocampal cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Piton et al. (2008) noted that the IL1RAPL1 gene contains 11 exons spanning 1.37 Mb. </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>Bahi et al. (2003) assessed the effect of recombinant IL1RAPL on the binding affinity of type I IL1R (147810) for its ligands IL1-alpha (147760) and -beta (147720) and searched for proteins interacting with the specific C-terminal domain of IL1RAPL. The authors concluded that IL1RAPL is not a protein receptor for IL1, but interacts with neuronal calcium sensor-1, NCS1 (FREQ; 603315), through its specific C-terminal domain. The functional relevance of IL1RAPL activity was further supported by the inhibitory effect on exocytosis in PC12 cells overexpressing IL1RAPL. The authors suggested that IL1RAPL may regulate calcium-dependent exocytosis. </p><p>Gambino et al. (2007) found that stable expression of Il1rapl1 in PC12 cells induced specific silencing of N-type voltage-gated calcium channels (see CACNA1B; 601012) via interaction with Ncs1. </p><p>Piton et al. (2008) found that miRNA knockdown of the Il1rapl1 gene in rat hippocampal cells resulted in an increase in the number and length of dendrites. </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">
|
|
<strong>Cytogenetics</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">
|
|
<p>During the investigation of 3 brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy (300376), glycerol kinase deficiency, congenital adrenal hypoplasia, and mental retardation, Jin et al. (2000) found that the dystrophin gene (300377) was fused tail-to-tail with the IL1RAPL1 gene. The deletion in these patients removed 3 exons encoding the intracellular signaling domain of IL1RAPL1. Jin et al. (2000) suggested that molecules resembling IL1 (see 147720) and IL18 (see 600953) play a role in the development or function of the central nervous system. </p><p>In a 6-year-old boy with mental retardation, Lepretre et al. (2003) identified an X chromosome inversion, inv(X)(p21.3q27.1). A similar chromosomal rearrangement was detected in his mildly mentally retarded mother. FISH, using a panel of ordered YAC clones, allowed the identification of YACs spanning both the Xp21.3 and Xq27.1 breakpoints, where many nonspecific mental retardation loci had been reported. Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the inversion. </p><p>Bhat et al. (2008) reported a 7-year-old boy with developmental delay, features of autism, facial dysmorphism, and a pericentromeric inversion disrupting the IL1RAPL1 gene: inv(X)(p22.1q13). His mother, who also carried the inversion, had mild mental retardation and autism. She had also experienced a severe CNS infection as an infant. </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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</h4>
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<p>In affected males from 2 unrelated families with nonspecific X-linked intellectual developmental disorder (XLID21; 300143), Carrie et al. (1999) and Tabolacci et al. (2006) identified mutations in the IL1RAPL1 gene (300206.0001 and 300206.0002). </p><p>In 4 affected males in a family segregating nonspecific X-linked intellectual developmental disorder showing linkage to Xp22.11-p21.2 (between markers DXS1226 and DXS1061), Nawara et al. (2008) identified a deletion of exons 2, 3, 4, and 5 in the IL1RAPL1 gene (300206.0003). The deletion was also identified in 3 obligatory female carriers. </p><p>In 3 brothers with variable severity of cognitive impairment, ranging from impaired intellectual development to autistic features, Piton et al. (2008) identified a hemizygous 730-kb deletion in the IL1RAPL1 gene (300206.0004). The deletion was identified by whole-genome search of copy number variants using comparative genomic hybridization. </p><p>In a French Canadian girl with high functioning autism consistent with Asperger syndrome (see 300143) and no impaired intellectual development, Piton et al. (2008) identified a heterozygous de novo 7-bp deletion (1730delTACTCTT) in exon 9 of the IL1RAPL1 gene, resulting in a frameshift and premature termination. The truncated protein was predicted to lack part of the transmembrane domain as well as the entire cytoplasmic domain. The mutation was not found in 276 control chromosomes. Although in vitro studies in rat hippocampal cells indicated that the deletion resulted in a loss of function, transfection of the truncated mutant alone did not affect neurite outgrowth. </p><p>Franek et al. (2011) identified a 635-kb deletion spanning exons 2-5 in the IL1RAPL1 gene (see 300206.0003) in 3 males from a family with X-linked impaired development, although exact deletion breakpoints were not mapped. Two affected males from a second family had a deletion of exons 1-5 of the IL1RAPL1 gene, which was inherited from their unaffected mother. Franek et al. (2011) concluded that loss of function of the IL1RAPL1 protein is associated with intellectual disability. </p>
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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>4 Selected Examples):</strong>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</strong>
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</h4>
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IL1RAPL1, TYR459TER
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SNP: rs122461160,
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ClinVar: RCV000012235
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<p>In a pedigree in which 3 brothers had nonspecific X-linked intellectual developmental disorder (XLID21; 300143), Carrie et al. (1999) found a C-to-A transition in exon 11 (5 nucleotides downstream of the splice acceptor site) that led to conversion of TAC (tyrosine) to TAA (stop). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</strong>
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</span>
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<span class="mim-text-font">
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IL1RAPL1, TRP487TER
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SNP: rs122461161,
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ClinVar: RCV000012236
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<p>In 4 affected males from a family with nonspecific X-linked intellectual developmental disorder (XLID21; 300143), Tabolacci et al. (2006) identified a 1460G-A transition in exon 10 of the IL1RAPL1 gene, resulting in a trp487-to-ter (W487X) substitution. The family was originally reported by Kozak et al. (1993) and designated MRX21. The mutation was predicted to result in a truncated protein lacking half of the intracellular TIR domain and the entire C-terminal domain. Two female mutation carriers demonstrated learning disabilities, although blood leukocytes showed X-inactivation patterns favoring the wildtype allele. Tabolacci et al. (2006) suggested that brain neurons may show different X-inactivation patterns. </p>
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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>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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IL1RAPL1, EX2-5DEL
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<br />
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ClinVar: RCV000012237
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<span class="mim-text-font">
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<p>In 4 affected males in a family segregating nonspecific X-linked intellectual developmental disorder (XLID21; 300143), Nawara et al. (2008) identified a deletion of exons 2, 3, 4, and 5 in the IL1RAPL1 gene. The deletion was also identified in 3 obligatory female carriers, all of whom were apparently of normal intelligence. </p><p>Franek et al. (2011) reported a family in which 3 males had low IQ and other variable features, including hypotonia (2), pectus excavatum (2), prominent jaw (2), synophrys (2), and hyperextensible joints (2). Two had behavioral abnormalities, including impulsivity, oppositional disorder, and hyperactivity. One had pigmentary skin changes. Genetic analysis identified a 635-kb deletion spanning exons 2-5 in the IL1RAPL1 gene, similar to that reported by Nawara et al. (2008), although exact deletion breakpoints were not mapped. </p>
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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>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21</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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IL1RAPL1, 730-KB DEL, EX3-7
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<br />
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ClinVar: RCV000022836
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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 boy with intellectual developmental disorder (XLID21; 300143), Piton et al. (2008) identified a 730-kb deletion in the IL1RAPL1 gene, resulting in the deletion of exons 3 through 7 and causing premature termination. The deletion was also found in the patient's 2 brothers who had a less severe cognitive phenotype: one had pervasive developmental disorder, not otherwise specified (PDDNOS), and the other had mildly impaired intellectual development with repetitive behaviors, but no other signs of autism. The mother carried the 730-kb deletion but did not show any cognitive or behavioral abnormality. </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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bahi, N., Friocourt, G., Carrie, A., Graham, M. E., Weiss, J. L., Chafey, P., Fauchereau, F., Burgoyne, R. D., Chelly, J.
|
|
<strong>IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis.</strong>
|
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Hum. Molec. Genet. 12: 1415-1425, 2003.
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[PubMed: 12783849]
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[Full Text: https://doi.org/10.1093/hmg/ddg147]
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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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Bhat, S. S., Ladd, S., Grass, F., Spence, J. E., Brasington, C. K., Simensen, R. J., Schwartz, C. E., DuPont, B. R., Stevenson, R. E., Srivastava, A. K.
|
|
<strong>Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. (Letter)</strong>
|
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Clin. Genet. 73: 94-96, 2008.
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[PubMed: 18005360]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00920.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S., Hamel, B., Moraine, C., and 10 others.
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|
<strong>A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.</strong>
|
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Nature Genet. 23: 25-31, 1999.
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[PubMed: 10471494]
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[Full Text: https://doi.org/10.1038/12623]
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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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Franek, K. J., Butler, J., Johnson, J., Simensen, R., Friez, M. J., Bartel, F., Moss, T., DuPont, B., Berry, K., Bauman, M., Skinner, C., Stevenson, R. E., Schwartz, C. E.
|
|
<strong>Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.</strong>
|
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Am. J. Med. Genet. 155A: 1109-1114, 2011.
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[PubMed: 21484992]
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[Full Text: https://doi.org/10.1002/ajmg.a.33833]
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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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Gambino, F., Pavlowsky, A., Begle, A., Dupont, J.-L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B., Chelly, J., Vitale, N., Humeau, Y.
|
|
<strong>IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca(2+)-channel and neurite elongation.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 9063-9068, 2007.
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[PubMed: 17502602]
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[Full Text: https://doi.org/10.1073/pnas.0701133104]
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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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Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., Roberts, R. G.
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<strong>Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.</strong>
|
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Europ. J. Hum. Genet. 8: 87-94, 2000.
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[PubMed: 10757639]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200415]
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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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Kozak, L., Chiurazzi, P., Genuardi, M., Pomponi, M. G., Zollino, M., Neri, G.
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<strong>Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.3-Xp22.1.</strong>
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J. Med. Genet. 30: 866-869, 1993.
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[PubMed: 8230164]
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[Full Text: https://doi.org/10.1136/jmg.30.10.866]
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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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Lepretre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C.
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<strong>Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.</strong>
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Cytogenet. Genome Res. 101: 124-129, 2003.
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[PubMed: 14610352]
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[Full Text: https://doi.org/10.1159/000074167]
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</li>
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<li>
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<p class="mim-text-font">
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Nawara, M., Klapecki, J., Borg, K., Jurek, M., Moreno, S., Tryfon, J., Bal, J., Chelly, J., Mazurczak, T.
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<strong>Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.</strong>
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Am. J. Med. Genet. 146A: 3167-3172, 2008.
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[PubMed: 19012350]
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[Full Text: https://doi.org/10.1002/ajmg.a.32613]
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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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Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D Project Team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., Rouleau, G. A.
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<strong>Mutations in the calcium-related gene IL1RAPL1 are associated with autism.</strong>
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Hum. Molec. Genet. 17: 3965-3974, 2008.
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[PubMed: 18801879]
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[Full Text: https://doi.org/10.1093/hmg/ddn300]
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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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Tabolacci, E., Pomponi, M. G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G.
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<strong>A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.</strong>
|
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Am. J. Med. Genet. 140A: 482-487, 2006.
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[PubMed: 16470793]
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[Full Text: https://doi.org/10.1002/ajmg.a.31107]
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</li>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/21/2011<br>Cassandra L. Kniffin - updated : 4/4/2011<br>Nara Sobreira - updated : 9/4/2009<br>Cassandra L. Kniffin - updated : 3/17/2008<br>Patricia A. Hartz - updated : 1/16/2008<br>Cassandra L. Kniffin - updated : 3/21/2006<br>George E. Tiller - updated : 3/21/2005<br>Victor A. McKusick - updated : 12/8/2003<br>Victor A. McKusick - updated : 10/30/2000
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/30/1999
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Edit History:
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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 : 08/02/2021<br>alopez : 09/19/2016<br>carol : 09/12/2013<br>carol : 9/22/2011<br>ckniffin : 9/21/2011<br>wwang : 4/11/2011<br>ckniffin : 4/4/2011<br>carol : 9/8/2009<br>terry : 9/4/2009<br>wwang : 3/18/2008<br>ckniffin : 3/17/2008<br>mgross : 1/25/2008<br>terry : 1/16/2008<br>wwang : 3/23/2006<br>ckniffin : 3/21/2006<br>alopez : 3/21/2005<br>tkritzer : 12/10/2003<br>terry : 12/8/2003<br>carol : 4/3/2003<br>alopez : 3/26/2003<br>alopez : 3/26/2003<br>cwells : 3/13/2002<br>mgross : 12/11/2000<br>carol : 10/31/2000<br>terry : 10/30/2000<br>alopez : 2/1/2000<br>alopez : 11/23/1999<br>alopez : 8/31/1999<br>alopez : 8/30/1999<br>alopez : 8/30/1999
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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