3369 lines
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Entry
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- *608444 - LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608444</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#history">History</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608444">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000005483;t=ENST00000311117" 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=55904" 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=608444" 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000005483;t=ENST00000311117" 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_001410908,NM_018682,NM_182931,XM_005250493,XM_011516400,XM_047420612,XM_047420613" 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_182931" 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=608444" 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=10528&isoform_id=10528_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/KMT2E" 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/8489023,10436380,21686536,23345117,26224748,27370955,28784187,28784189,29150700,29648540,29691295,31753205,33636768,34193766,38201800,38201802,38565950,41471870,74723669,91199543,119603761,119603762,119603763,119603764,148753321,447602691,530386215,767948259,2217367858,2217367860,2287478715,2462615338,2462615340,2462615342,2462615344" 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/Q8IZD2" 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=55904" 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=ENSG00000005483;t=ENST00000311117" 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=KMT2E" 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=KMT2E" 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+55904" 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/KMT2E" 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:55904" 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/55904" 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=chr7&hgg_gene=ENST00000311117.8&hgg_start=105014205&hgg_end=105115019&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>
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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:18541" 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:18541" 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=608444[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608444[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/KMT2E/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/ENSG00000005483" 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=KMT2E" 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=KMT2E" 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=KMT2E" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KMT2E&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/PA38568" 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:18541" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036398.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1924825" 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/KMT2E#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:1924825" 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/55904/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=55904" 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-030131-4120" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55904" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=KMT2E&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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608444
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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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LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E
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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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MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KMT2E" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KMT2E</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/7/564?start=-3&limit=10&highlight=564">7q22.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:105014205-105115019&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'})">7:105,014,205-105,115,019</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/7/564?start=-3&limit=10&highlight=564">
|
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7q22.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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O'Donnell-Luria-Rodan syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<a href="/entry/618512"> 618512 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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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/608444" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608444" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<p>The KMT2E gene encodes a member of the lysine N-methyltransferase-2 (KMT2) family, a group of enzymes that play a role in transcriptional regulation through chromatin remodeling (summary by <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By searching for candidate genes within a commonly deleted segment of chromosome 7q22, followed by database analysis and RT-PCR of bone marrow RNA, <a href="#2" class="mim-tip-reference" title="Emerling, B. M., Bonifas, J., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Le Beau, M. M., Shannon, K. M. <strong>MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.</strong> Oncogene 21: 4849-4854, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101424</a>] [<a href="https://doi.org/10.1038/sj.onc.1205615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101424">Emerling et al. (2002)</a> cloned MLL5. The deduced 1,858-amino acid protein contains an N-terminal PHD finger and a central SET domain. MLL5 shares 38% amino acid identity with MLL (<a href="/entry/159555">159555</a>), but it lacks the A-T hooks and MT homology domains found in MLL. Northern blot analysis detected a 6.5-kb transcript in all hematopoietic tissues examined. MLL5 expression was also detected in all tissues analyzed on RNA tissue arrays, with the highest levels in fetal thymus and kidney and in adult hematopoietic tissues, jejunum, and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12101424" 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="#1" class="mim-tip-reference" title="Deng, L.-W., Chiu, I., Strominger, J. L. <strong>MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.</strong> Proc. Nat. Acad. Sci. 101: 757-762, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14718661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14718661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14718661[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.2036345100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14718661">Deng et al. (2004)</a> identified numerous nuclear localization signals distributed throughout the MLL5 sequence. Both transfected epitope-tagged MLL5 and endogenous MLL5 displayed a speckled nuclear distribution and exclusion from nucleoli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14718661" 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="Deng, L.-W., Chiu, I., Strominger, J. L. <strong>MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.</strong> Proc. Nat. Acad. Sci. 101: 757-762, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14718661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14718661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14718661[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.2036345100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14718661">Deng et al. (2004)</a> found that ectopic overexpression of MLL5 induced cell cycle arrest in G1 phase. They hypothesized that MLL5 may form intranuclear protein complexes that may be involved in chromatin remodeling and cellular growth suppression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14718661" 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="#2" class="mim-tip-reference" title="Emerling, B. M., Bonifas, J., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Le Beau, M. M., Shannon, K. M. <strong>MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.</strong> Oncogene 21: 4849-4854, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101424</a>] [<a href="https://doi.org/10.1038/sj.onc.1205615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101424">Emerling et al. (2002)</a> determined that the MLL5 gene contains 25 exons and spans 73 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12101424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis <a href="#2" class="mim-tip-reference" title="Emerling, B. M., Bonifas, J., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Le Beau, M. M., Shannon, K. M. <strong>MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.</strong> Oncogene 21: 4849-4854, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101424</a>] [<a href="https://doi.org/10.1038/sj.onc.1205615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101424">Emerling et al. (2002)</a> mapped the MLL5 gene to chromosome 7q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12101424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The report of <a href="#3" class="mim-tip-reference" title="Fujiki, R., Chikanishi, T., Hashiba, W., Ito, H., Takada, I., Roeder, R. G., Kitagawa, H., Kato, S. <strong>GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.</strong> Nature 459: 455-459, 2009. Note: Retraction: Nature 505: 574 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377461</a>] [<a href="https://doi.org/10.1038/nature07954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377461">Fujiki et al. (2009)</a>, which found that nuclear GlcNAcylation of a histone lysine methyltransferase (HKMT), MLL5, by O-GlcNAc transferase (<a href="/entry/300255">300255</a>) facilitates retinoic acid-induced granulopoiesis in human HL60 promyelocytes through methylation of H3K4, was retracted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377461" 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 34 individuals with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified 31 different heterozygous mutations in the KMT2E gene (see, e.g., <a href="#0001">608444.0001</a>-<a href="/entry/608044#0006">608044.0006</a>). The patients were ascertained through collaboration of several research centers, and the mutations were found by exome or genome sequencing. Most of the mutations resulted in a truncated protein, consistent with haploinsufficiency, although 4 patients carried missense mutations that affected highly conserved residues. The vast majority of the mutations occurred de novo, although there was 1 family with 3 affected sibs who may have inherited the variant from an affected father; DNA from the father was not available. Functional studies of the variants and studies of patient cells were not performed, but the authors postulated haploinsufficiency for KMT2E as the pathogenic mechanism for the protein-truncating mutations, and altered KMT2E binding properties for the missense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" 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 18 patients from 17 families with ODLURO, <a href="#5" class="mim-tip-reference" title="Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C., Fung, J. L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., and 27 others. <strong>O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</strong> J. Med. Genet. 59: 697-705, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34321323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34321323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34321323[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/10.1136/jmedgenet-2020-107470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34321323">Velmans et al. (2022)</a> identified heterozygous mutations in the KMT2E gene, including 4 nonsense mutations, 7 frameshifts, 2 single nucleotide substitutions involving the canonical splice site, 1 multinucleotide deletion spanning the canonical splice site, and 1 apparent synonymous mutation that was predicted to create a novel splice donor site (<a href="#0007">608444.0007</a>). Two patients had microdeletions, a 711-kb deletion encompassing approximately 98% of the coding sequence, and a 61-kb deletion encompassing approximately 75% of the coding sequence. Of all 17 mutations, 13 were confirmed to be de novo, 2 were proven not to be inherited from the mother but the fathers were unable to be tested, and 2 were inherited from fathers. Only one of the mutations (<a href="#0008">608444.0008</a>) had previously been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34321323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1584802744 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584802744;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1584802744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1584802744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000790635 OR RCV000993725 OR RCV004721597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000790635, RCV000993725, RCV004721597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000790635...</a>
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<p>In a 4-year-old boy (patient 13) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous c.2452C-T transition (c.2452C-T, NM_182931.2) in the KMT2E gene, resulting in an arg818-to-ter (R818X) substitution. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs186916831 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs186916831;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs186916831?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs186916831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs186916831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000790636 OR RCV000993733" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000790636, RCV000993733" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000790636...</a>
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<p>In a 9-year-old girl (patient 22) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous c.3554C-G transversion (c.3554C-G, NM_182931.2) in the KMT2E gene, resulting in a ser1185-to-ter (S1185X) substitution. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1562927768 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562927768;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1562927768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1562927768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000790637 OR RCV000993722 OR RCV001662801" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000790637, RCV000993722, RCV001662801" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000790637...</a>
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<p>In 2 unrelated children (patients 9 and 10) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous 5-bp deletion (c.1776_1780delAAAGA, NM_182931.2) in the KMT2E gene, resulting in a frameshift and premature termination (Lys593ArgfsTer17). The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1584751177 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584751177;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1584751177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1584751177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 brothers (family 3) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a heterozygous 1-bp duplication (c.450dupT, NM_182931.2) in the KMT2E gene, resulting in a premature termination (arg151-to-ter; R151X) in the PHD finger domain. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. The variant was not found in the mother; the father, who was not available for testing, was reported to have had intellectual disability. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74375534 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74375534;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs74375534?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs74375534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs74375534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000790639 OR RCV000993738 OR RCV003117581" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000790639, RCV000993738, RCV003117581" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000790639...</a>
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<p>In a 16-year-old boy (patient 33) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous c.418G-A transition (c.418G-A, NM_182931.2) in the KMT2E gene, resulting in a val140-to-ile (V140I) substitution at a highly conserved residue in the PHD finger domain. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the substitution was predicted to change the structure of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1584803942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584803942;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1584803942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1584803942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000790640 OR RCV000993740" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000790640, RCV000993740" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000790640...</a>
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<p>In a 3-year-old girl (patient 35) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618512">618512</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous c.2720A-T transversion in the KMT2E gene, resulting in an asp907-to-val (D907V) substitution at a highly conserved residue. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the substitution was predicted to change the structure of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2129567228 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2129567228;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2129567228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2129567228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient (patient 13) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618412">618412</a>), <a href="#5" class="mim-tip-reference" title="Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C., Fung, J. L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., and 27 others. <strong>O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</strong> J. Med. Genet. 59: 697-705, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34321323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34321323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34321323[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/10.1136/jmedgenet-2020-107470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34321323">Velmans et al. (2022)</a> identified a de novo heterozygous c.264A-G transition (c.264A-G, NM_182931.2) in the KMT2E gene, predicting to result in a synonymous change (glu88-to-glu) that is predicted to activate a cryptic donor site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34321323" 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>.0008 O'DONNELL-LURIA-RODAN SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1243172283 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1243172283;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1243172283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1243172283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001380028 OR RCV001420174 OR RCV004037640 OR RCV004743443" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001380028, RCV001420174, RCV004037640, RCV004743443" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001380028...</a>
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<p>In a patient (patient 10) with O'Donnell-Luria-Rodan syndrome (ODLURO; <a href="/entry/618412">618412</a>), <a href="#4" class="mim-tip-reference" title="O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others. <strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong> Am. J. Hum. Genet. 104: 1210-1222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.03.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31079897">O'Donnell-Luria et al. (2019)</a> identified a de novo heterozygous duplication at nucleotide 4829 (c.4829dupT, NM_182931.2) in the KMT2E gene, predicted to result in a frameshift and protein extension (Leu1610PhefsTer259). <a href="#5" class="mim-tip-reference" title="Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C., Fung, J. L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., and 27 others. <strong>O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</strong> J. Med. Genet. 59: 697-705, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34321323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34321323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34321323[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/10.1136/jmedgenet-2020-107470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34321323">Velmans et al. (2022)</a> reported another boy with ODLURO who had the same de novo heterozygous mutation. The mutation is predicted to escape nonsense-mediated decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31079897+34321323" 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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Deng, L.-W., Chiu, I., Strominger, J. L.
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<strong>MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.</strong>
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Proc. Nat. Acad. Sci. 101: 757-762, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14718661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14718661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14718661[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=14718661" 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.2036345100" target="_blank">Full Text</a>]
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Emerling, B. M., Bonifas, J., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Le Beau, M. M., Shannon, K. M.
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<strong>MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.</strong>
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Oncogene 21: 4849-4854, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12101424" 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.onc.1205615" target="_blank">Full Text</a>]
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Fujiki, R., Chikanishi, T., Hashiba, W., Ito, H., Takada, I., Roeder, R. G., Kitagawa, H., Kato, S.
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<strong>GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.</strong>
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Nature 459: 455-459, 2009. Note: Retraction: Nature 505: 574 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others.
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<strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong>
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Am. J. Hum. Genet. 104: 1210-1222, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31079897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31079897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31079897[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=31079897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C., Fung, J. L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., and 27 others.
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<strong>O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</strong>
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J. Med. Genet. 59: 697-705, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34321323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34321323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34321323[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=34321323" 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/jmedgenet-2020-107470" target="_blank">Full Text</a>]
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</p>
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</ol>
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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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Sonja A. Rasmussen - updated : 04/08/2024
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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 : 07/24/2019<br>Ada Hamosh - updated : 8/17/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/5/2004
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</span>
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</div>
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</div>
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<div>
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<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 : 04/08/2024
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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 : 07/25/2019<br>ckniffin : 07/24/2019<br>mgross : 03/14/2014<br>alopez : 3/4/2014<br>alopez : 3/4/2014<br>alopez : 8/19/2009<br>terry : 8/17/2009<br>mgross : 2/5/2004
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</span>
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</div>
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</div>
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</div>
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<div 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> 608444
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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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LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E
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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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MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KMT2E</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: 7q22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:105,014,205-105,115,019 </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">
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7q22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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O'Donnell-Luria-Rodan syndrome
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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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618512
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</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 KMT2E gene encodes a member of the lysine N-methyltransferase-2 (KMT2) family, a group of enzymes that play a role in transcriptional regulation through chromatin remodeling (summary by O'Donnell-Luria et al., 2019). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching for candidate genes within a commonly deleted segment of chromosome 7q22, followed by database analysis and RT-PCR of bone marrow RNA, Emerling et al. (2002) cloned MLL5. The deduced 1,858-amino acid protein contains an N-terminal PHD finger and a central SET domain. MLL5 shares 38% amino acid identity with MLL (159555), but it lacks the A-T hooks and MT homology domains found in MLL. Northern blot analysis detected a 6.5-kb transcript in all hematopoietic tissues examined. MLL5 expression was also detected in all tissues analyzed on RNA tissue arrays, with the highest levels in fetal thymus and kidney and in adult hematopoietic tissues, jejunum, and cerebellum. </p><p>Deng et al. (2004) identified numerous nuclear localization signals distributed throughout the MLL5 sequence. Both transfected epitope-tagged MLL5 and endogenous MLL5 displayed a speckled nuclear distribution and exclusion from nucleoli. </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>Deng et al. (2004) found that ectopic overexpression of MLL5 induced cell cycle arrest in G1 phase. They hypothesized that MLL5 may form intranuclear protein complexes that may be involved in chromatin remodeling and cellular growth suppression. </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>Emerling et al. (2002) determined that the MLL5 gene contains 25 exons and spans 73 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis Emerling et al. (2002) mapped the MLL5 gene to chromosome 7q22. </p>
|
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</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<span class="mim-text-font">
|
|
<p>The report of Fujiki et al. (2009), which found that nuclear GlcNAcylation of a histone lysine methyltransferase (HKMT), MLL5, by O-GlcNAc transferase (300255) facilitates retinoic acid-induced granulopoiesis in human HL60 promyelocytes through methylation of H3K4, was retracted. </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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>In 34 individuals with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified 31 different heterozygous mutations in the KMT2E gene (see, e.g., 608444.0001-608044.0006). The patients were ascertained through collaboration of several research centers, and the mutations were found by exome or genome sequencing. Most of the mutations resulted in a truncated protein, consistent with haploinsufficiency, although 4 patients carried missense mutations that affected highly conserved residues. The vast majority of the mutations occurred de novo, although there was 1 family with 3 affected sibs who may have inherited the variant from an affected father; DNA from the father was not available. Functional studies of the variants and studies of patient cells were not performed, but the authors postulated haploinsufficiency for KMT2E as the pathogenic mechanism for the protein-truncating mutations, and altered KMT2E binding properties for the missense mutations. </p><p>In 18 patients from 17 families with ODLURO, Velmans et al. (2022) identified heterozygous mutations in the KMT2E gene, including 4 nonsense mutations, 7 frameshifts, 2 single nucleotide substitutions involving the canonical splice site, 1 multinucleotide deletion spanning the canonical splice site, and 1 apparent synonymous mutation that was predicted to create a novel splice donor site (608444.0007). Two patients had microdeletions, a 711-kb deletion encompassing approximately 98% of the coding sequence, and a 61-kb deletion encompassing approximately 75% of the coding sequence. Of all 17 mutations, 13 were confirmed to be de novo, 2 were proven not to be inherited from the mother but the fathers were unable to be tested, and 2 were inherited from fathers. Only one of the mutations (608444.0008) had previously been reported. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 O'DONNELL-LURIA-RODAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KMT2E, ARG818TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1584802744,
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|
|
|
|
|
|
|
ClinVar: RCV000790635, RCV000993725, RCV004721597
|
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|
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|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old boy (patient 13) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a de novo heterozygous c.2452C-T transition (c.2452C-T, NM_182931.2) in the KMT2E gene, resulting in an arg818-to-ter (R818X) substitution. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 O'DONNELL-LURIA-RODAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
KMT2E, SER1185TER
|
|
|
|
|
|
<br />
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|
|
SNP: rs186916831,
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|
|
|
gnomAD: rs186916831,
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|
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ClinVar: RCV000790636, RCV000993733
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old girl (patient 22) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a de novo heterozygous c.3554C-G transversion (c.3554C-G, NM_182931.2) in the KMT2E gene, resulting in a ser1185-to-ter (S1185X) substitution. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 O'DONNELL-LURIA-RODAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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KMT2E, 5-BP DEL, 1776AAAGA
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<br />
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SNP: rs1562927768,
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|
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ClinVar: RCV000790637, RCV000993722, RCV001662801
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated children (patients 9 and 10) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a de novo heterozygous 5-bp deletion (c.1776_1780delAAAGA, NM_182931.2) in the KMT2E gene, resulting in a frameshift and premature termination (Lys593ArgfsTer17). The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. </p>
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<span class="mim-font">
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<strong>.0004 O'DONNELL-LURIA-RODAN SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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KMT2E, 1-BP DUP, 450T
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<br />
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SNP: rs1584751177,
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ClinVar: RCV000790638
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</span>
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<span class="mim-text-font">
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<p>In 3 brothers (family 3) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a heterozygous 1-bp duplication (c.450dupT, NM_182931.2) in the KMT2E gene, resulting in a premature termination (arg151-to-ter; R151X) in the PHD finger domain. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. The variant was not found in the mother; the father, who was not available for testing, was reported to have had intellectual disability. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0005 O'DONNELL-LURIA-RODAN SYNDROME</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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KMT2E, VAL140ILE
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<br />
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SNP: rs74375534,
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gnomAD: rs74375534,
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ClinVar: RCV000790639, RCV000993738, RCV003117581
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</span>
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<span class="mim-text-font">
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<p>In a 16-year-old boy (patient 33) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a de novo heterozygous c.418G-A transition (c.418G-A, NM_182931.2) in the KMT2E gene, resulting in a val140-to-ile (V140I) substitution at a highly conserved residue in the PHD finger domain. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the substitution was predicted to change the structure of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 O'DONNELL-LURIA-RODAN SYNDROME</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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KMT2E, ASP907VAL
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<br />
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SNP: rs1584803942,
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ClinVar: RCV000790640, RCV000993740
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old girl (patient 35) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618512), O'Donnell-Luria et al. (2019) identified a de novo heterozygous c.2720A-T transversion in the KMT2E gene, resulting in an asp907-to-val (D907V) substitution at a highly conserved residue. The variant, which was found by whole-exome or whole-genome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed, but the substitution was predicted to change the structure of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 O'DONNELL-LURIA-RODAN SYNDROME</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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KMT2E, c.264A-G
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<br />
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SNP: rs2129567228,
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ClinVar: RCV001420177
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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 patient (patient 13) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618412), Velmans et al. (2022) identified a de novo heterozygous c.264A-G transition (c.264A-G, NM_182931.2) in the KMT2E gene, predicting to result in a synonymous change (glu88-to-glu) that is predicted to activate a cryptic donor site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 O'DONNELL-LURIA-RODAN SYNDROME</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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KMT2E, 1-BP DUP, 4829T
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<br />
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SNP: rs1243172283,
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ClinVar: RCV001380028, RCV001420174, RCV004037640, RCV004743443
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient (patient 10) with O'Donnell-Luria-Rodan syndrome (ODLURO; 618412), O'Donnell-Luria et al. (2019) identified a de novo heterozygous duplication at nucleotide 4829 (c.4829dupT, NM_182931.2) in the KMT2E gene, predicted to result in a frameshift and protein extension (Leu1610PhefsTer259). Velmans et al. (2022) reported another boy with ODLURO who had the same de novo heterozygous mutation. The mutation is predicted to escape nonsense-mediated decay. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Deng, L.-W., Chiu, I., Strominger, J. L.
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<strong>MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.</strong>
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Proc. Nat. Acad. Sci. 101: 757-762, 2004.
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[PubMed: 14718661]
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[Full Text: https://doi.org/10.1073/pnas.2036345100]
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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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Emerling, B. M., Bonifas, J., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Le Beau, M. M., Shannon, K. M.
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<strong>MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.</strong>
|
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Oncogene 21: 4849-4854, 2002.
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[PubMed: 12101424]
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[Full Text: https://doi.org/10.1038/sj.onc.1205615]
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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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Fujiki, R., Chikanishi, T., Hashiba, W., Ito, H., Takada, I., Roeder, R. G., Kitagawa, H., Kato, S.
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<strong>GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.</strong>
|
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Nature 459: 455-459, 2009. Note: Retraction: Nature 505: 574 only, 2014.
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[PubMed: 19377461]
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[Full Text: https://doi.org/10.1038/nature07954]
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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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O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., and 74 others.
|
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<strong>Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.</strong>
|
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Am. J. Hum. Genet. 104: 1210-1222, 2019.
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[PubMed: 31079897]
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[Full Text: https://doi.org/10.1016/j.ajhg.2019.03.021]
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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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Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C., Fung, J. L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., and 27 others.
|
|
<strong>O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</strong>
|
|
J. Med. Genet. 59: 697-705, 2022.
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[PubMed: 34321323]
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[Full Text: https://doi.org/10.1136/jmedgenet-2020-107470]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 04/08/2024<br>Cassandra L. Kniffin - updated : 07/24/2019<br>Ada Hamosh - updated : 8/17/2009
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</span>
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</div>
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</div>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/5/2004
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</span>
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Edit History:
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<span class="mim-text-font">
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carol : 04/08/2024<br>alopez : 07/25/2019<br>ckniffin : 07/24/2019<br>mgross : 03/14/2014<br>alopez : 3/4/2014<br>alopez : 3/4/2014<br>alopez : 8/19/2009<br>terry : 8/17/2009<br>mgross : 2/5/2004
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