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- *612452 - KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1
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- OMIM
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<p>
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<span class="h4">*612452</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612452">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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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=ENSG00000120071;t=ENST00000432791" 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=284058" 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=612452" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</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=ENSG00000120071;t=ENST00000432791" 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_001193465,NM_001193466,NM_001379198,NM_001405854,NM_001405855,NM_001405856,NM_001405857,NM_001405858,NM_001405859,NM_001405860,NM_001405861,NM_001405872,NM_001405873,NM_001405874,NM_001405875,NM_001405876,NM_001405877,NM_001405878,NM_001405879,NM_001405880,NM_001405881,NM_001405882,NM_001405883,NM_001405884,NM_001405885,NM_015443,XM_011524628,XM_047435794,XM_047435800,XM_047435801" 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_015443" 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=612452" 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=11254&isoform_id=11254_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/KANSL1" 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/5911949,6331206,6807806,21438796,23273530,31874092,32698714,50950041,68534642,119613982,119613983,158255954,193787758,301500643,301500645,767994339,1824718252,2217311239,2217311253,2217311255,2234629886,2234629888,2234629893,2234629901,2234629905,2234629913,2234629919,2234629937,2234629941,2234629943,2234629950,2234629961,2234629968,2234629972,2234629974,2234629976,2234629980,2234629984,2234629994,2234629996,2234630005,2235184217,2462490895,2462490897,2462490899,2462490901,2462492930,2462492932,2462492934,2462492936,2462554566,2462554568,2462554570,2462554572,2462554574,2462554576,2528974260" 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/Q7Z3B3" 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=284058" 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=ENSG00000120071;t=ENST00000432791" 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=KANSL1" 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=KANSL1" 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+284058" 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/KANSL1" 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:284058" 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/284058" 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=chr17&hgg_gene=ENST00000432791.7&hgg_start=46029916&hgg_end=46225367&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:24565" 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:24565" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/kansl1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612452[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=612452[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/KANSL1/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/ENSG00000120071" 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=KANSL1" 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=KANSL1" 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=KANSL1" 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="http://www.LOVD.nl/KANSL1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KANSL1&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/PA142671604" 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:24565" 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/FBgn0262527.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:1923969" 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/KANSL1#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:1923969" 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/284058/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=284058" 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-121219-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=KANSL1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 717338006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612452
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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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KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1
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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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MSL1V1<br />
|
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KIAA1267
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KANSL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KANSL1</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/17/665?start=-3&limit=10&highlight=665">17q21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:46029916-46225367&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'})">17:46,029,916-46,225,367</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
|
|
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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/665?start=-3&limit=10&highlight=665">
|
|
17q21.31
|
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</a>
|
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</span>
|
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</td>
|
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|
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<td>
|
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<span class="mim-font">
|
|
Koolen-De Vries syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610443"> 610443 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<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;">
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<p>The KANSL1 gene encodes a nuclear protein that plays a role in chromatin modification. It is a member of a histone acetyltransferase (HAT) complex (<a href="#5" class="mim-tip-reference" title="Smith, E. R., Cayrou, C., Huang, R., Lane, W. S., Cote, J., Lucchesi, J. C. <strong>A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.</strong> Molec. Cell. Biol. 25: 9175-9188, 2005. Note: Erratum: Molec. Cell. Biol. 26: 387 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16227571[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.25.21.9175-9188.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227571">Smith et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227571" 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 sequencing clones obtained from a size-fractionated adult human brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 337-345, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574462</a>] [<a href="https://doi.org/10.1093/dnares/6.5.337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574462">Nagase et al. (1999)</a> cloned KIAA1267. The deduced protein contains 1,105 amino acids. RT-PCR ELISA detected high expression in liver and intermediate expression in all other adult and fetal tissues and specific adult brain regions examined, except subthalamic nuclei, where no expression was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Smith, E. R., Cayrou, C., Huang, R., Lane, W. S., Cote, J., Lucchesi, J. C. <strong>A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.</strong> Molec. Cell. Biol. 25: 9175-9188, 2005. Note: Erratum: Molec. Cell. Biol. 26: 387 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16227571[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.25.21.9175-9188.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227571">Smith et al. (2005)</a> noted that KIAA1267, which they called MSL1V1, and MSL1 (<a href="/entry/614801">614801</a>) share similarity at their C termini. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Smith, E. R., Cayrou, C., Huang, R., Lane, W. S., Cote, J., Lucchesi, J. C. <strong>A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.</strong> Molec. Cell. Biol. 25: 9175-9188, 2005. Note: Erratum: Molec. Cell. Biol. 26: 387 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16227571[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.25.21.9175-9188.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227571">Smith et al. (2005)</a> showed that MSL1V1 associated with MOF (MYST1; <a href="/entry/609912">609912</a>) in a protein complex that showed histone acetyltransferase (HAT) activity toward nucleosomal histone H4 (see <a href="/entry/602822">602822</a>). This MOF complex showed a strong preference for acetylation of H4 lys16 (H4K16). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227571" 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 radiation hybrid analysis, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 337-345, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574462</a>] [<a href="https://doi.org/10.1093/dnares/6.5.337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574462">Nagase et al. (1999)</a> mapped the KIAA1267 gene to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a girl with mental retardation and characteristic facial features (Koolen-de Vries syndrome; KDVS; <a href="/entry/610443">610443</a>), <a href="#6" class="mim-tip-reference" title="Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G. <strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong> Nature Genet. 44: 636-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544367</a>] [<a href="https://doi.org/10.1038/ng.2257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544367">Zollino et al. (2012)</a> identified a de novo heterozygous truncating mutation in the KANSL1 gene (<a href="#0001">612452.0001</a>). The girl had classic features of chromosome 17q21.31 deletion syndrome, but did not have a deletion on FISH or array CGH analysis; the mutation was identified by exome sequencing. Direct sequencing of this gene in another unrelated girl with features of the disorder in whom no deletion could be detected identified a second de novo truncating mutation (<a href="#0002">612452.0002</a>). Both had failure to thrive in infancy, hypotonia, delayed psychomotor development, and a friendly demeanor. Characteristic facial features included broad forehead, upslanting palpebral fissures, epicanthal folds, 'pear'-shaped nose with bulbous nasal tip, long philtrum, large ears, broad chin, abnormal hair texture, and sparse eyebrows. Both also had joint hyperextensibility. The findings indicated that point mutation in the KANSL1 gene is sufficient for full manifestations of chromosome 17q21.31 deletion syndrome, and indicated that it is a monogenic disorder caused by haploinsufficiency of KANSL1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Sanger sequencing of the KANSL1 gene in 16 individuals with features of 17q21.31 deletion syndrome who did not have copy number variations in the MAPT (<a href="/entry/157140">157140</a>) or KANSL1 genes, <a href="#1" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. <strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong> Nature Genet. 44: 639-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544363</a>] [<a href="https://doi.org/10.1038/ng.2262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544363">Koolen et al. (2012)</a> identified different de novo heterozygous truncating mutations in the KANSL1 gene (<a href="#0003">612452.0003</a> and <a href="#0004">612452.0004</a>) in 2 unrelated patients. Both patients had delayed psychomotor development, intellectual disability, hypotonia, friendly personality, and characteristic facial features, including broad forehead, long face, upslanting palpebral fissures, epicanthal folds, and tubular nose with bulbous nasal tip. Both also had joint laxity, slender lower limbs, pes planus, sacral dimple, and abnormal hair color or texture. One patient had additional features, including cleft lip/palate, ventricular septal defect, cryptorchidism, hypermetropia, strabismus, and scoliosis. Whole-transcriptome sequencing of 3 individuals with the classic 17q21.31 deletion showed that expression levels of KANSL1 were reduced by half. Whole-transcriptome sequencing of 1 of the patients with a point mutation showed differential expression of similar genes as those in patients with deletions; these genes are believed to be involved in neuronal/synaptic processes. The findings showed that haploinsufficiency of KANSL1 is sufficient to cause the classic 17q21.31 microdeletion syndrome phenotype, and provided evidence that the histone acetyltransferase complex may have a role in human cognitive function and developmental processes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> reported 45 patients with KDVS confirmed by genetic analysis, including 33 with a 17q21.21 microdeletion encompassing the KANSL1 gene and 12 with a de novo heterozygous mutation in KANSL1 (see, e.g., <a href="#0004">612452.0004</a>-<a href="#0006">612452.0006</a>), all of which were predicted to result in haploinsufficiency. Functional studies of the variants were not performed. <a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> noted that genetic testing of the 17q21.31 locus can be challenging because of the structural complexity of the genomic region. There were no differences of clinical importance between the 2 groups, indicating that haploinsufficiency for KANSL1 is sufficient to cause the core phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Lone, M., Kungl, T., Koper, A., Bottenberg, W., Kammerer, R., Klein, M., Sweeney, S. T., Auburn, R. P., O'Kane, C. J., Prokop, A. <strong>The nuclear protein Waharan is required for endosomal-lysosomal trafficking in Drosophila.</strong> J. Cell Sci. 123: 2369-2374, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20551180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20551180</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20551180[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/10.1242/jcs.060582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20551180">Lone et al. (2010)</a> identified the Drosophila Waharan gene (Wah), a nuclear protein that is a potential homolog of KANSL1, as a regulator of endosomal trafficking. Knockdown of Wah in Drosophila caused novel accumulations of tightly packed electron-dense tubules in muscle. These tubules coincided with sites at which ubiquitylated proteins and endosomal and lysosomal markers coaccumulated. The findings suggested a relationship between nuclear functions and endolysosomal trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20551180" 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="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. <strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong> Nature Genet. 44: 639-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544363</a>] [<a href="https://doi.org/10.1038/ng.2262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544363">Koolen et al. (2012)</a> demonstrated that tissue-specific knockdown of Wah in the mushroom bodies of the Drosophila brain caused a 25% reduction in learning ability, confirming an important role for this gene in the regulation of complex brain function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>6 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612452[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281865469 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865469;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/rs281865469?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=rs281865469" 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=rs281865469" 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=RCV000024371 OR RCV000523815 OR RCV001255390" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024371, RCV000523815, RCV001255390" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024371...</a>
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<p>In a 3-year-old Italian girl with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#6" class="mim-tip-reference" title="Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G. <strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong> Nature Genet. 44: 636-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544367</a>] [<a href="https://doi.org/10.1038/ng.2257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544367">Zollino et al. (2012)</a> identified a de novo heterozygous 1816C-T transition in exon 6 of the KANSL1 gene, resulting in an arg606-to-ter (R606X) substitution. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The mutation was not found in multiple SNP databases or in 400 Italian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" 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">rs281865471 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865471;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=rs281865471" 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=rs281865471" 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 14-year-old Italian girl with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#6" class="mim-tip-reference" title="Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G. <strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong> Nature Genet. 44: 636-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544367</a>] [<a href="https://doi.org/10.1038/ng.2257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544367">Zollino et al. (2012)</a> identified a de novo heterozygous 2-bp deletion (2785_2787delAG) in exon 13 of the KANSL1 gene, resulting in a frameshift and premature termination (Arg929GlyfsTer44). The mutation was not found in multiple SNP databases or in 400 Italian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" 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">rs281865468 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865468;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=rs281865468" 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=rs281865468" 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=RCV000024373 OR RCV003362664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024373, RCV003362664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024373...</a>
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<p>In a 3-year-old Caucasian girl with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#1" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. <strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong> Nature Genet. 44: 639-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544363</a>] [<a href="https://doi.org/10.1038/ng.2262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544363">Koolen et al. (2012)</a> identified a de novo heterozygous 916C-T transition in exon 3 of the KANSL1 gene, resulting in a gln306-to-ter (Q306X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> stated that the c.916C-T transition (c.916C-T, NM_001193466.1) in the KANSL1 gene occurs in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" 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">rs281865470 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865470;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=rs281865470" 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=rs281865470" 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=RCV000024374 OR RCV000482618" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024374, RCV000482618" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024374...</a>
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<p>In a 13-year-old boy with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#1" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. <strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong> Nature Genet. 44: 639-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544363</a>] [<a href="https://doi.org/10.1038/ng.2262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22544363">Koolen et al. (2012)</a> identified a de novo heterozygous G-to-A transition in intron 6 of the KANSL1 gene (1652+1G-A), resulting in the skipping of exon 6, a frameshift, and premature termination. The patient also had joint laxity, cleft lip and palate, hypermetropia, strabismus, ventricular septal defect, cryptorchidism, and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> identified a de novo heterozygous c.1652+1G-A mutation in the KANSL1 gene in a second patient (patient 35) with KDVS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" 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>.0005 KOOLEN-DE VRIES 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"><span class="text-primary">●</span> rs281865473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865473;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/rs281865473?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=rs281865473" 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=rs281865473" 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=RCV000032181 OR RCV004814931" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032181, RCV004814931" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032181...</a>
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<p>In a 5-year-old boy (patient 36) with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> identified a de novo heterozygous 2-bp deletion (c.985_986del, NM_001193466.1) in exon 2 of the KANLS1 gene, predicted to result in a frameshift and premature termination (Leu329GlufsTer22). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" 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">rs1555575816 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555575816;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=rs1555575816" 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=rs1555575816" 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=RCV000576453" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000576453" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000576453</a>
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<p>In a 10-year-old girl (patient 41) with Koolen-de Vries syndrome (KDVS; <a href="/entry/610443">610443</a>), <a href="#2" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. <strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong> Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26306646">Koolen et al. (2016)</a> identified a de novo heterozygous 1-bp deletion (c.572del, NM_001193466.1) in exon 2 of the KANLS1 gene, predicted to result in a frameshift and premature termination (Gly191ValfsTer11). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" 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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Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others.
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<strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong>
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Nature Genet. 44: 639-641, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" 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/ng.2262" target="_blank">Full Text</a>]
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Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others.
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<strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong>
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Europ. J. Hum. Genet. 24: 652-659, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26306646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26306646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[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=26306646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank">Full Text</a>]
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Lone, M., Kungl, T., Koper, A., Bottenberg, W., Kammerer, R., Klein, M., Sweeney, S. T., Auburn, R. P., O'Kane, C. J., Prokop, A.
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<strong>The nuclear protein Waharan is required for endosomal-lysosomal trafficking in Drosophila.</strong>
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[<a href="https://doi.org/10.1242/jcs.060582" target="_blank">Full Text</a>]
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Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 337-345, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/6.5.337" target="_blank">Full Text</a>]
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Smith, E. R., Cayrou, C., Huang, R., Lane, W. S., Cote, J., Lucchesi, J. C.
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<strong>A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.</strong>
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[<a href="https://doi.org/10.1128/MCB.25.21.9175-9188.2005" target="_blank">Full Text</a>]
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Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G.
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<strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong>
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Nature Genet. 44: 636-638, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" 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/ng.2257" target="_blank">Full Text</a>]
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/02/2018
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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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Patricia A. Hartz - updated : 3/14/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<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 : 12/3/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/02/2024
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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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carol : 01/03/2018<br>carol : 01/02/2018<br>ckniffin : 01/02/2018<br>carol : 05/09/2017<br>mgross : 10/21/2013<br>carol : 9/12/2013<br>carol : 10/5/2012<br>joanna : 10/4/2012<br>carol : 9/7/2012<br>mgross : 9/5/2012<br>terry : 8/8/2012<br>terry : 6/8/2012<br>carol : 6/8/2012<br>ckniffin : 6/7/2012<br>mgross : 3/24/2011<br>terry : 3/14/2011<br>mgross : 12/3/2008
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612452
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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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KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1
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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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MSL1V1<br />
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KIAA1267
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KANSL1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 717338006;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17q21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:46,029,916-46,225,367 </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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17q21.31
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</span>
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</td>
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<td>
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<span class="mim-font">
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Koolen-De Vries 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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610443
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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 KANSL1 gene encodes a nuclear protein that plays a role in chromatin modification. It is a member of a histone acetyltransferase (HAT) complex (Smith et al., 2005). </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 sequencing clones obtained from a size-fractionated adult human brain cDNA library, Nagase et al. (1999) cloned KIAA1267. The deduced protein contains 1,105 amino acids. RT-PCR ELISA detected high expression in liver and intermediate expression in all other adult and fetal tissues and specific adult brain regions examined, except subthalamic nuclei, where no expression was detected. </p><p>Smith et al. (2005) noted that KIAA1267, which they called MSL1V1, and MSL1 (614801) share similarity at their C termini. </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>Smith et al. (2005) showed that MSL1V1 associated with MOF (MYST1; 609912) in a protein complex that showed histone acetyltransferase (HAT) activity toward nucleosomal histone H4 (see 602822). This MOF complex showed a strong preference for acetylation of H4 lys16 (H4K16). </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 radiation hybrid analysis, Nagase et al. (1999) mapped the KIAA1267 gene to chromosome 17. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a girl with mental retardation and characteristic facial features (Koolen-de Vries syndrome; KDVS; 610443), Zollino et al. (2012) identified a de novo heterozygous truncating mutation in the KANSL1 gene (612452.0001). The girl had classic features of chromosome 17q21.31 deletion syndrome, but did not have a deletion on FISH or array CGH analysis; the mutation was identified by exome sequencing. Direct sequencing of this gene in another unrelated girl with features of the disorder in whom no deletion could be detected identified a second de novo truncating mutation (612452.0002). Both had failure to thrive in infancy, hypotonia, delayed psychomotor development, and a friendly demeanor. Characteristic facial features included broad forehead, upslanting palpebral fissures, epicanthal folds, 'pear'-shaped nose with bulbous nasal tip, long philtrum, large ears, broad chin, abnormal hair texture, and sparse eyebrows. Both also had joint hyperextensibility. The findings indicated that point mutation in the KANSL1 gene is sufficient for full manifestations of chromosome 17q21.31 deletion syndrome, and indicated that it is a monogenic disorder caused by haploinsufficiency of KANSL1. </p><p>By Sanger sequencing of the KANSL1 gene in 16 individuals with features of 17q21.31 deletion syndrome who did not have copy number variations in the MAPT (157140) or KANSL1 genes, Koolen et al. (2012) identified different de novo heterozygous truncating mutations in the KANSL1 gene (612452.0003 and 612452.0004) in 2 unrelated patients. Both patients had delayed psychomotor development, intellectual disability, hypotonia, friendly personality, and characteristic facial features, including broad forehead, long face, upslanting palpebral fissures, epicanthal folds, and tubular nose with bulbous nasal tip. Both also had joint laxity, slender lower limbs, pes planus, sacral dimple, and abnormal hair color or texture. One patient had additional features, including cleft lip/palate, ventricular septal defect, cryptorchidism, hypermetropia, strabismus, and scoliosis. Whole-transcriptome sequencing of 3 individuals with the classic 17q21.31 deletion showed that expression levels of KANSL1 were reduced by half. Whole-transcriptome sequencing of 1 of the patients with a point mutation showed differential expression of similar genes as those in patients with deletions; these genes are believed to be involved in neuronal/synaptic processes. The findings showed that haploinsufficiency of KANSL1 is sufficient to cause the classic 17q21.31 microdeletion syndrome phenotype, and provided evidence that the histone acetyltransferase complex may have a role in human cognitive function and developmental processes. </p><p>Koolen et al. (2016) reported 45 patients with KDVS confirmed by genetic analysis, including 33 with a 17q21.21 microdeletion encompassing the KANSL1 gene and 12 with a de novo heterozygous mutation in KANSL1 (see, e.g., 612452.0004-612452.0006), all of which were predicted to result in haploinsufficiency. Functional studies of the variants were not performed. Koolen et al. (2016) noted that genetic testing of the 17q21.31 locus can be challenging because of the structural complexity of the genomic region. There were no differences of clinical importance between the 2 groups, indicating that haploinsufficiency for KANSL1 is sufficient to cause the core phenotype. </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>Animal Model</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Lone et al. (2010) identified the Drosophila Waharan gene (Wah), a nuclear protein that is a potential homolog of KANSL1, as a regulator of endosomal trafficking. Knockdown of Wah in Drosophila caused novel accumulations of tightly packed electron-dense tubules in muscle. These tubules coincided with sites at which ubiquitylated proteins and endosomal and lysosomal markers coaccumulated. The findings suggested a relationship between nuclear functions and endolysosomal trafficking. </p><p>Koolen et al. (2012) demonstrated that tissue-specific knockdown of Wah in the mushroom bodies of the Drosophila brain caused a 25% reduction in learning ability, confirming an important role for this gene in the regulation of complex brain function. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 KOOLEN-DE VRIES SYNDROME</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
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|
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KANSL1, ARG606TER
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|
<br />
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|
|
SNP: rs281865469,
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|
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gnomAD: rs281865469,
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|
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ClinVar: RCV000024371, RCV000523815, RCV001255390
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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 3-year-old Italian girl with Koolen-de Vries syndrome (KDVS; 610443), Zollino et al. (2012) identified a de novo heterozygous 1816C-T transition in exon 6 of the KANSL1 gene, resulting in an arg606-to-ter (R606X) substitution. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The mutation was not found in multiple SNP databases or in 400 Italian controls. </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>.0002 KOOLEN-DE VRIES 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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KANSL1, 2-BP DEL, 2785AG
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<br />
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SNP: rs281865471,
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ClinVar: RCV000024372
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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 14-year-old Italian girl with Koolen-de Vries syndrome (KDVS; 610443), Zollino et al. (2012) identified a de novo heterozygous 2-bp deletion (2785_2787delAG) in exon 13 of the KANSL1 gene, resulting in a frameshift and premature termination (Arg929GlyfsTer44). The mutation was not found in multiple SNP databases or in 400 Italian controls. </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>.0003 KOOLEN-DE VRIES 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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KANSL1, GLN306TER
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<br />
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SNP: rs281865468,
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ClinVar: RCV000024373, RCV003362664
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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 Caucasian girl with Koolen-de Vries syndrome (KDVS; 610443), Koolen et al. (2012) identified a de novo heterozygous 916C-T transition in exon 3 of the KANSL1 gene, resulting in a gln306-to-ter (Q306X) substitution. </p><p>Koolen et al. (2016) stated that the c.916C-T transition (c.916C-T, NM_001193466.1) in the KANSL1 gene occurs in exon 2. </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>.0004 KOOLEN-DE VRIES 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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KANSL1, IVS6DS, G-A, +1
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<br />
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SNP: rs281865470,
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ClinVar: RCV000024374, RCV000482618
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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 13-year-old boy with Koolen-de Vries syndrome (KDVS; 610443), Koolen et al. (2012) identified a de novo heterozygous G-to-A transition in intron 6 of the KANSL1 gene (1652+1G-A), resulting in the skipping of exon 6, a frameshift, and premature termination. The patient also had joint laxity, cleft lip and palate, hypermetropia, strabismus, ventricular septal defect, cryptorchidism, and scoliosis. </p><p>Koolen et al. (2016) identified a de novo heterozygous c.1652+1G-A mutation in the KANSL1 gene in a second patient (patient 35) with KDVS. </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>.0005 KOOLEN-DE VRIES 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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KANSL1, 2-BP DEL, NT985
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<br />
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SNP: rs281865473,
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gnomAD: rs281865473,
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ClinVar: RCV000032181, RCV004814931
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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 5-year-old boy (patient 36) with Koolen-de Vries syndrome (KDVS; 610443), Koolen et al. (2016) identified a de novo heterozygous 2-bp deletion (c.985_986del, NM_001193466.1) in exon 2 of the KANLS1 gene, predicted to result in a frameshift and premature termination (Leu329GlufsTer22). </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>.0006 KOOLEN-DE VRIES 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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KANSL1, 1-BP DEL, NT572
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<br />
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SNP: rs1555575816,
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ClinVar: RCV000576453
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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 10-year-old girl (patient 41) with Koolen-de Vries syndrome (KDVS; 610443), Koolen et al. (2016) identified a de novo heterozygous 1-bp deletion (c.572del, NM_001193466.1) in exon 2 of the KANLS1 gene, predicted to result in a frameshift and premature termination (Gly191ValfsTer11). </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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Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others.
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<strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong>
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Nature Genet. 44: 639-641, 2012.
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[PubMed: 22544363]
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[Full Text: https://doi.org/10.1038/ng.2262]
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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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Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others.
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|
<strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong>
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Europ. J. Hum. Genet. 24: 652-659, 2016.
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[PubMed: 26306646]
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[Full Text: https://doi.org/10.1038/ejhg.2015.178]
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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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Lone, M., Kungl, T., Koper, A., Bottenberg, W., Kammerer, R., Klein, M., Sweeney, S. T., Auburn, R. P., O'Kane, C. J., Prokop, A.
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|
<strong>The nuclear protein Waharan is required for endosomal-lysosomal trafficking in Drosophila.</strong>
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J. Cell Sci. 123: 2369-2374, 2010.
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[PubMed: 20551180]
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[Full Text: https://doi.org/10.1242/jcs.060582]
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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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Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 337-345, 1999.
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[PubMed: 10574462]
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[Full Text: https://doi.org/10.1093/dnares/6.5.337]
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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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Smith, E. R., Cayrou, C., Huang, R., Lane, W. S., Cote, J., Lucchesi, J. C.
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<strong>A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.</strong>
|
|
Molec. Cell. Biol. 25: 9175-9188, 2005. Note: Erratum: Molec. Cell. Biol. 26: 387 only, 2006.
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[PubMed: 16227571]
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[Full Text: https://doi.org/10.1128/MCB.25.21.9175-9188.2005]
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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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Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G.
|
|
<strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong>
|
|
Nature Genet. 44: 636-638, 2012.
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[PubMed: 22544367]
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[Full Text: https://doi.org/10.1038/ng.2257]
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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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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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Cassandra L. Kniffin - updated : 01/02/2018<br>Patricia A. Hartz - updated : 3/14/2011
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<span class="mim-text-font">
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Patricia A. Hartz : 12/3/2008
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carol : 10/02/2024<br>carol : 01/03/2018<br>carol : 01/02/2018<br>ckniffin : 01/02/2018<br>carol : 05/09/2017<br>mgross : 10/21/2013<br>carol : 9/12/2013<br>carol : 10/5/2012<br>joanna : 10/4/2012<br>carol : 9/7/2012<br>mgross : 9/5/2012<br>terry : 8/8/2012<br>terry : 6/8/2012<br>carol : 6/8/2012<br>ckniffin : 6/7/2012<br>mgross : 3/24/2011<br>terry : 3/14/2011<br>mgross : 12/3/2008
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