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Entry
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- *605283 - MAGE-LIKE 2; MAGEL2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605283</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605283">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000254585;t=ENST00000650528" 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=54551" 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=605283" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000254585;t=ENST00000650528" 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_019066" 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_019066" 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=605283" 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=12008&isoform_id=12008_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/MAGEL2" 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/6523287,11066410,39645644,85700332,85700334,116283801,119578013,257900508,928505947" 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/Q9UJ55" 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=54551" 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=ENSG00000254585;t=ENST00000650528" 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=MAGEL2" 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=MAGEL2" 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+54551" 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/MAGEL2" 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:54551" 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/54551" 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=chr15&hgg_gene=ENST00000650528.1&hgg_start=23643549&hgg_end=23647867&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:6814" 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:6814" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605283[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=605283[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/MAGEL2/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/ENSG00000254585" 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.gwascentral.org/search?q=MAGEL2" 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=MAGEL2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MAGEL2&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/PA30562" 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:6814" 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/FBgn0037481.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:1351648" 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/MAGEL2#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:1351648" 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/54551/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=54551" 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>
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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=MAGEL2&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> 1229946007<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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605283
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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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MAGE-LIKE 2; MAGEL2
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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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NECDIN-LIKE 1; NDNL1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MAGEL2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MAGEL2</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/15/20?start=-3&limit=10&highlight=20">15q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:23643549-23647867&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'})">15:23,643,549-23,647,867</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/15/20?start=-3&limit=10&highlight=20">
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15q11.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Schaaf-Yang syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615547"> 615547 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605283" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605283" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The MAGEL2 gene encodes a ubiquitin ligase enhancer that is required for endosomal protein recycling (summary by <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" 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="Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F. <strong>The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.</strong> Hum. Molec. Genet. 8: 2497-2505, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556298</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556298">Boccaccio et al. (1999)</a> reported the characterization of the MAGEL2 (MAGE-like-2) gene, which they identified within the critical region for Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>). By RT-PCR analysis of fibroblast and total brain RNA from normal individuals and patients with Angelman (<a href="/entry/105830">105830</a>) and Prader-Willi syndromes, they demonstrated that MAGEL2 is transcribed only from the paternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556298" 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="#8" class="mim-tip-reference" title="Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S. J., Brannan, C. I., Stewart, C. L., Wevrick, R. <strong>Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.</strong> Hum. Molec. Genet. 9: 1813-1819, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915770</a>] [<a href="https://doi.org/10.1093/hmg/9.12.1813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10915770">Lee et al. (2000)</a> independently cloned and characterized the MAGEL2 gene, also known as NDNL1 (necdin-like-1). The MAGEL2 gene encodes a 529-amino acid protein with 51% sequence similarity to necdin (NDN; <a href="/entry/602117">602117</a>). As shown by Northern blot analysis, the 4.5-kb MAGEL2 transcript is expressed predominantly in brain, the primary tissue affected in PWS, and in several fetal tissues. MAGEL2 is imprinted with monoallelic expression in control brain, and with paternal-only expression in the central nervous system, as demonstrated by its lack of expression in brain from a PWS-affected individual. The orthologous mouse gene, Magel2, is imprinted with paternal-only expression and is expressed predominantly in late developmental stages and adult brain as shown by Northern blot analysis, RT-PCR, and whole-mount RNA in situ hybridization. Magel2 distribution partially overlaps that of Ndn, with strong expression being detected in the central nervous system in midgestation mouse embryos by in situ hybridization. <a href="#8" class="mim-tip-reference" title="Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S. J., Brannan, C. I., Stewart, C. L., Wevrick, R. <strong>Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.</strong> Hum. Molec. Genet. 9: 1813-1819, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915770</a>] [<a href="https://doi.org/10.1093/hmg/9.12.1813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10915770">Lee et al. (2000)</a> hypothesized that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915770" 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="#9" class="mim-tip-reference" title="Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R. <strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong> Hum. Molec. Genet. 14: 627-637, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>] [<a href="https://doi.org/10.1093/hmg/ddi059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649943">Lee et al. (2005)</a> demonstrated that necdin and Magel2 bound to and prevented proteasomal degradation of Fez1 (<a href="/entry/604825">604825</a>), which is implicated in axonal outgrowth and kinesin-mediated transport, and also bound to BBS4 (<a href="/entry/600374">600374</a>) protein in cotransfected cells. The interactions among necdin, Magel2, Fez1, and BBS4 occurred at or near centrosomes. Centrosomal or pericentriolar dysfunction has previously been implicated in BBS (<a href="/entry/209900">209900</a>) and may also be important in features of PWS that overlap with BBS, such as learning disabilities, hypogonadism, and obesity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649943" 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="Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F. <strong>The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.</strong> Hum. Molec. Genet. 8: 2497-2505, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556298</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556298">Boccaccio et al. (1999)</a> determined that the MAGEL2 gene is intronless. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556298" 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="Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F. <strong>The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.</strong> Hum. Molec. Genet. 8: 2497-2505, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556298</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556298">Boccaccio et al. (1999)</a> identified the MAGEL2 gene within the PWS deletion region on chromosome 15q11-q13. The mouse Magel2 gene resides on chromosome 7C, within a region of conserved synteny with human 15q11-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556298" 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="#8" class="mim-tip-reference" title="Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S. J., Brannan, C. I., Stewart, C. L., Wevrick, R. <strong>Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.</strong> Hum. Molec. Genet. 9: 1813-1819, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915770</a>] [<a href="https://doi.org/10.1093/hmg/9.12.1813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10915770">Lee et al. (2000)</a> determined that the MAGEL2 gene is located 41 kb distal to the necdin gene (NDN; <a href="/entry/602117">602117</a>). The mouse Magel2 gene is located within 150 kb of Ndn. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 unrelated boys with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al. (2013)</a> identified 4 different de novo heterozygous truncating mutations in the MAGEL2 gene (<a href="#0001">605283.0001</a>-<a href="#0004">605283.0004</a>). All mutations occurred on the paternal allele. Because the maternal allele is not normally expressed, the findings were consistent with a loss of MAGEL2 function. The mutation in the first patient was found by clinical whole-exome sequencing. Based on these results, a research database of 1,248 whole-exome sequencing cases were reviewed, and the 3 remaining cases were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sisters with Schaaf-Yang syndrome, <a href="#16" class="mim-tip-reference" title="Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., and 15 others. <strong>Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.</strong> Sci. Transl. Med. 6: 265ra168, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25473036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25473036</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25473036[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/10.1126/scitranslmed.3010076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25473036">Soden et al. (2014)</a> identified a heterozygous truncating mutation in the MAGEL2 gene (c.1996dupC; <a href="#0005">605283.0005</a>). The mutation was found by whole-genome sequencing and apparently resulted from gonadal mosaicism; the mutation was missed by initial whole-exome sequencing. The patients were part of a larger cohort of 100 families with neurodevelopmental disorders who underwent whole-exome or whole-genome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25473036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 fetuses, born of unrelated parents, with Schaaf-Yang syndrome manifest as arthrogryposis multiplex congenita (AMC) and death in utero, <a href="#11" class="mim-tip-reference" title="Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerriere, A., Melki, J. <strong>Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis.</strong> Am. J. Hum. Genet. 97: 616-620, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26365340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.08.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26365340">Mejlachowicz et al. (2015)</a> identified a heterozygous truncating mutation in the MAGEL2 gene (c.1996delC; <a href="#0006">605283.0006</a>). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the unaffected father who inherited it from his unaffected mother. Direct Sanger sequencing of the MAGEL2 gene in 84 additional cases of AMC and/or decreased fetal motility identified another patient with a de novo heterozygous truncating mutation (c.2118delT; <a href="#0007">605283.0007</a>) that occurred on the paternal allele. This patient had severe hypotonia with respiratory distress and died at 2 days of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 18 patients with SHFYNG, <a href="#5" class="mim-tip-reference" title="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> identified heterozygous truncating mutations in the MAGEL2 gene (see, e.g., <a href="#0005">605283.0005</a>-<a href="/entry/605383#0006">605383.0006</a>, <a href="#0008">605283.0008</a>-<a href="#0009">605283.0009</a>). The patients were ascertained based on genotype from whole-exome or direct Sanger sequencing through multiple research-based centers or laboratories. All mutations, which were confirmed by Sanger sequencing, resulted in a truncated protein. All patients tested carried the mutation on the paternal allele, consistent with maternal imprinting of the MAGEL2 gene. In 3 families, the mutation segregated with the disorder: unaffected fathers inherited the mutation from an unaffected mother. <a href="#5" class="mim-tip-reference" title="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> speculated that the mutations could result in a dominant-negative effect. The phenotype was highly variable, ranging from relatively mild contractures to fetal akinesia, AMC, and early death. Nucleotides c.1990-1996 include a sequence of 7 cytosines that represent a mutational hotspot: 11 individuals from 7 families had a c.1996dupC mutation (<a href="#0005">605283.0005</a>), and 2 from the same family had a c.1996delC mutation (<a href="#0006">605283.0006</a>). Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27195816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., and 14 others. <strong>Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders.</strong> J. Med. Genet. 55: 316-321, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599419</a>] [<a href="https://doi.org/10.1136/jmedgenet-2017-105222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599419">Jobling et al. (2018)</a> reported 5 patients from 3 unrelated families who were diagnosed clinically with Chitayat-Hall syndrome but were found to carry heterozygous loss-of-function mutations in the MAGEL2 gene on the paternal allele (see, e.g., <a href="#0005">605283.0005</a>). One of the patients was the affected sister originally reported by <a href="#4" class="mim-tip-reference" title="Chitayat, D., Hall, J. G., Couch, R. M., Phang, M. S., Baldwin, V. J. <strong>Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.</strong> Am. J. Med. Genet. 37: 65-70, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2240046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2240046</a>] [<a href="https://doi.org/10.1002/ajmg.1320370116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2240046">Chitayat et al. (1990)</a>, who was heterozygous for a complex rearrangement and partial deletion of MAGEL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2240046+29599419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 unrelated patients with SHFYNG, <a href="#12" class="mim-tip-reference" title="Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L., Amudhavalli, S., Pacio-Miguez, M., Palomares-Bralo, M., Garcia-Minaur, S., Santos-Simarro, F., Powis, Z., Alcaraz, W., Tang, S., Jurgens, J., Barry, B., England, E., Engle, E., Hess, J., Lebel, R. R. <strong>MAGEL2-related disorders: a study and case series.</strong> Clin. Genet. 96: 493-505, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31397880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31397880</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31397880[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/10.1111/cge.13620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31397880">Patak et al. (2019)</a> identified heterozygous mutations in the MAGEL2 gene. The mutations were found by whole-exome sequencing and the patients were ascertained through collaborative efforts. Four patients carried frameshift or nonsense mutations, including c.1996delC, and 1 (patient 2) carried a missense variant (A538E; <a href="#0010">605283.0010</a>). The mutations, all of which occurred on the paternal allele, occurred de novo in 4 patients and resulted from low-level mosaicism in an unaffected father in the fifth. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31397880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with Schaaf-Yang syndrome and chronic intestinal pseudoobstruction, <a href="#1" class="mim-tip-reference" title="Bayat, A., Bayat, M., Lozoya, R., Schaaf, C. P. <strong>Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infant with Schaaf-Yang syndrome--expanding the phenotypic spectrum.</strong> Europ. J. Med. Genet. 61: 627-630, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29660409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29660409</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29660409">Bayat et al. (2018)</a> sequenced the MAGEL2 gene and identified heterozygosity for the c.1996dupC mutation in the (<a href="#0005">605283.0005</a>) in the MAGEL2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29660409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 78 patients with Schaaf-Yang syndrome reported by <a href="#10" class="mim-tip-reference" title="McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P. <strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong> Am. J. Med. Genet. 176A: 2564-2574, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30302899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30302899</a>] [<a href="https://doi.org/10.1002/ajmg.a.40650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30302899">McCarthy et al. (2018)</a>, 42 had MAGEL2 mutations within a mutation hotspot region where there are 7 cytosines at nucleotides 1990-1996. The most common mutation was c.1996dupC, found in 35 patients. The authors compared the phenotypes of 2 groups of patients with Schaaf-Yang syndrome based on the locations of their MAGEL2 mutation: 35 patients with c.1996dupC and 38 patients with any truncating mutation other than c.1996dupC. Patients with c.1996dupC had more severe disease with a higher prevalence of joint contractures, feeding difficulties, and respiratory problems, as well as more severe intellectual disability/developmental delay. Mean IQ for those with c.1996dupC was 14.2 (n = 5), while those without a c.1996dupC mutation was 53.2 (n = 8). The mutation associated with the most severe phenotype, however, was deletion of a cytosine at nucleotide 1996 (c.1996delC; <a href="#0006">605283.0006</a>). Among the 5 patients with this mutation reported by <a href="#10" class="mim-tip-reference" title="McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P. <strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong> Am. J. Med. Genet. 176A: 2564-2574, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30302899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30302899</a>] [<a href="https://doi.org/10.1002/ajmg.a.40650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30302899">McCarthy et al. (2018)</a>, all died prenatally or within hours after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30302899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Possible Association with Age at Menarche</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others. <strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong> Nature 514: 92-97, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25231870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25231870</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25231870[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/nature13545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25231870">Perry et al. (2014)</a> performed a metaanalysis using genomewide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, and found robust evidence (p less than 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with 3 loci (DLK1, <a href="/entry/176290">176290</a>-WDR25, <a href="/entry/618059">618059</a>; MKRN3, <a href="/entry/603856">603856</a>-MAGEL2; and KCNK9, <a href="/entry/605874">605874</a>) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. The significant paternal parent-of-origin effect in delaying age of menarche at the MKRN3-MAGEL2 locus was associated with SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12148769;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs12148769</a> (p(pat) = 2.4 x 10(-6)). It was unclear which of the genes explained this menarche signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25231870" 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>Mammalian circadian rhythms of activity are generated within the suprachiasmatic nucleus (SCN). Transcripts from the imprinted, paternally expressed MAGEL2 gene, which maps to the chromosomal region associated with Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>), are highly enriched in the SCN. <a href="#7" class="mim-tip-reference" title="Kozlov, S. V., Bogenpohl, J. W., Howell, M. P., Wevrick, R., Panda, S., Hogenesch, J. B., Muglia, L. J., Van Gelder, R. N., Herzog, E. D., Stewart, C. L. <strong>The imprinted gene Magel2 regulates normal circadian output.</strong> Nature Genet. 39: 1266-1272, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17893678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17893678</a>] [<a href="https://doi.org/10.1038/ng2114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17893678">Kozlov et al. (2007)</a> found that in mice the Magel2 message is circadianly expressed and peaks during the subjective day. Mice deficient in Magel2 expression entrain to light cycles and express normal running-wheel rhythms, but with markedly reduced amplitude of activity and increased daytime activity. These changes are associated with reductions in food intake and male fertility. Levels of orexin (<a href="/entry/602358">602358</a>) levels and orexin-positive neurons in the lateral hypothalamus are substantially reduced, suggesting that some of the consequences of Magel2 loss are mediated through changes in orexin signaling. The robust rhythmicity of Magel2 expression in the SCN and the altered behavioral rhythmicity of null mice revealed Magel2 to be a clock-controlled circadian output gene whose disruption results in some of the phenotypes characteristic of PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17893678" 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="Bischof, J. M., Stewart, C. L., Wevrick, R. <strong>Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.</strong> Hum. Molec. Genet. 16: 2713-2739, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17728320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17728320</a>] [<a href="https://doi.org/10.1093/hmg/ddm225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17728320">Bischof et al. (2007)</a> found that Magel2-null mice showed features similar to those of PWS in humans. There was reduced embryonic viability associated with loss of Magel2. Magel2-null mice showed neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism, including increased fasting insulin and elevated cholesterol, in adulthood. Mutant mice also showed abnormalities in the circadian pattern of feeding behavior. The findings implicated loss of the Magel2 gene in hypothalamic dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17728320" 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="#15" class="mim-tip-reference" title="Schaller, F., Watrin, F., Sturny, R., Massacrier, A., Szepetowski, P., Muscatelli, F. <strong>A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.</strong> Hum. Molec. Genet. 19: 4895-4905, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20876615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20876615</a>] [<a href="https://doi.org/10.1093/hmg/ddq424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20876615">Schaller et al. (2010)</a> reported that a Magel2-deficient mouse strain with 50% neonatal mortality had an altered onset of suckling activity and subsequent impaired feeding, suggesting a role of MAGEL2 in the suckling deficit seen in PWS newborns. The hypothalamus of Magel2 mutant neonates showed a significant reduction in oxytocin (OT; <a href="/entry/167050">167050</a>). Furthermore, injection of a specific oxytocin receptor antagonist in wildtype neonates recapitulated the feeding deficiency seen in Magel2 mutants, and a single injection of oxytocin, 3 to 5 hours after birth, rescued the phenotype of Magel2 mutant pups, allowing all of them to survive. The authors proposed that oxytocin supplementation might constitute a promising treatment for feeding difficulties in PWS neonates and potentially in other newborns with impaired feeding onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20876615" 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 13-year-old boy with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al. (2013)</a> identified a de novo heterozygous 1-bp deletion (c.1652delT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Val551fs) on the paternal allele. The mutation was found by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398122416 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122416;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/rs398122416?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=rs398122416" 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=rs398122416" 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=RCV000074485" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074485" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074485</a>
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<p>In an 8-year-old boy with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al. (2013)</a> identified a de novo heterozygous 1-bp deletion (c.1802delC, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Pro601fs) on the paternal allele. The mutation was found by whole-exome sequencing. The patient met the classic clinical criteria for Prader-Willi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" 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">rs398122417 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122417;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=rs398122417" 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=rs398122417" 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=RCV000074486" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074486" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074486</a>
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<p>In a 5-year-old boy with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al. (2013)</a> identified a de novo heterozygous 2-bp deletion (c.3181_3182delAT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Ile1061fs) on the paternal allele. The mutation was found by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" 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">rs398122418 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122418;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=rs398122418" 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=rs398122418" 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 19-year-old boy with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#14" class="mim-tip-reference" title="Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y. <strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong> Nature Genet. 45: 1405-1408, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>] [<a href="https://doi.org/10.1038/ng.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24076603">Schaaf et al. (2013)</a> identified a de novo heterozygous c.3124C-T transition (c.3124C-T, NM_019066.4) in the MAGEL2 gene, resulting in a gln1024-to-ter (Q1024X) substitution on the paternal allele. The mutation was found by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs770374710 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770374710;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/rs770374710?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=rs770374710" 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=rs770374710" 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=RCV000170356 OR RCV000380351 OR RCV000622753 OR RCV002252015 OR RCV002273971 OR RCV002277321 OR RCV003458348" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170356, RCV000380351, RCV000622753, RCV002252015, RCV002273971, RCV002277321, RCV003458348" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170356...</a>
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<p>In 2 sisters with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#16" class="mim-tip-reference" title="Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., and 15 others. <strong>Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.</strong> Sci. Transl. Med. 6: 265ra168, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25473036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25473036</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25473036[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/10.1126/scitranslmed.3010076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25473036">Soden et al. (2014)</a> identified a heterozygous 1-bp duplication (c.1996dupC) in the MAGEL2 gene, predicted to result in a frameshift, premature termination (Gln666ProfsTer47), and a loss of function. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, was undetectable in the parents, suggesting gonadal mosaicism of this paternally expressed gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25473036" 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="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> identified a heterozygous c.1996dupC mutation in 11 patients with SHFYNG from 7 unrelated families; in 5 of these patients the mutation occurred de novo. All of these patients were ascertained based on genotype from whole-exome or direct Sanger sequencing through multiple research-based centers or laboratories. All mutations were confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27195816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with Schaaf-Yang syndrome, who had been clinically diagnosed with Chitayat-Hall syndrome, <a href="#6" class="mim-tip-reference" title="Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., and 14 others. <strong>Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders.</strong> J. Med. Genet. 55: 316-321, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599419</a>] [<a href="https://doi.org/10.1136/jmedgenet-2017-105222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599419">Jobling et al. (2018)</a> identified heterozygosity for the c.1996dupC mutation in the MAGEL2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 78 patients with Schaaf-Yang syndrome reported by <a href="#10" class="mim-tip-reference" title="McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P. <strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong> Am. J. Med. Genet. 176A: 2564-2574, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30302899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30302899</a>] [<a href="https://doi.org/10.1002/ajmg.a.40650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30302899">McCarthy et al. (2018)</a>, 35 (45%) had the c.1996dupC mutation in the MAGEL2 gene. The authors compared these patients to 38 patients with MAGEL2 mutations in other locations and found that patients with c.1996dupC had a higher prevalence of joint contractures, feeding difficulties, and respiratory problems, as well as more severe intellectual disability/developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30302899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with Schaaf-Yang syndrome and chronic intestinal pseudoobstruction, <a href="#1" class="mim-tip-reference" title="Bayat, A., Bayat, M., Lozoya, R., Schaaf, C. P. <strong>Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infant with Schaaf-Yang syndrome--expanding the phenotypic spectrum.</strong> Europ. J. Med. Genet. 61: 627-630, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29660409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29660409</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29660409">Bayat et al. (2018)</a> identified heterozygosity for the c.1996dupC in the MAGEL2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29660409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs770374710 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770374710;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/rs770374710?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=rs770374710" 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=rs770374710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 fetuses, born of unrelated parents, with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>) manifest as arthrogryposis multiplex congenita (AMC) and death in utero, <a href="#11" class="mim-tip-reference" title="Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerriere, A., Melki, J. <strong>Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis.</strong> Am. J. Hum. Genet. 97: 616-620, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26365340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.08.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26365340">Mejlachowicz et al. (2015)</a> identified a heterozygous 1-bp deletion (c.1996delC, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Gln666SerfsTer36). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the unaffected father who had inherited it from his unaffected mother. The mutation was not found in the dbSNP (build 144) or Exome Sequencing Project database. Skeletal muscle derived from one of the fetuses showed markedly decreased expression of the paternal MAGEL2 allele, as well as lack of MAGEL2 expression from the maternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365340" 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="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> identified a heterozygous c.1996delC mutation in the MAGEL2 gene in 2 fetal sibs (patients 5 and 6) with SHFYNG manifest as AMC. The mutation was inherited from the unaffected father who had inherited it from his unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27195816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Of 78 patients with Schaaf-Yang syndrome, <a href="#10" class="mim-tip-reference" title="McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P. <strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong> Am. J. Med. Genet. 176A: 2564-2574, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30302899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30302899</a>] [<a href="https://doi.org/10.1002/ajmg.a.40650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30302899">McCarthy et al. (2018)</a> found that 5 had the c.1996delC mutation in the MAGEL2 gene. These patients were severely affected, dying either in utero or within a few hours after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30302899" 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, born of unrelated parents, with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>) manifest as arthrogryposis multiplex congenita (AMC) and resulting in death at 2 days of age, <a href="#11" class="mim-tip-reference" title="Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerriere, A., Melki, J. <strong>Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis.</strong> Am. J. Hum. Genet. 97: 616-620, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26365340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.08.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26365340">Mejlachowicz et al. (2015)</a> identified a de novo heterozygous 1-bp deletion (c.2118delT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Leu708TrpfsTer7). The mutation, which occurred on the paternal allele, was found by direct Sanger sequencing of the MAGEL2 gene in 84 cases of AMC and/or decreased fetal motility. The mutation was not found in the dbSNP (build 144) or Exome Sequencing Project databases. Marked reduction of MAGEL2 expression was observed in the affected individual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365340" 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 19-year-old Spanish woman (patient 7) with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#17" class="mim-tip-reference" title="Urreizti, R., Cueto-Gonzalez, A. M., Franco-Valls, H., Mort-Farre, S., Roca-Ayats, N., Ponomarenko, J., Cozzuto, L., Company, C., Bosio, M., Ossowski, S., Montfort, M., Hecht, J., Tizzano, E. F., Cormand, B., Vilageliu, L., Opitz, J. M., Neri, G., Grinberg, D., Balcells, S. <strong>A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes.</strong> Sci. Rep. 7: 44138, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28281571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28281571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28281571[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/srep44138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28281571">Urreizti et al. (2017)</a> identified a de novo heterozygous c.1912C-T transition in the MAGEL2 gene, resulting in a gln638-to-ter (Q638X) substitution. Thr mutation, which was found by whole-exome sequencing, occurred on the paternal chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28281571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1-year-old boy (patient 4) with SHFYNG, <a href="#5" class="mim-tip-reference" title="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> identified a de novo heterozygous Q638X mutation in the MAGEL2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27195816" 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">rs1555374290 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555374290;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=rs1555374290" 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=rs1555374290" 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=RCV000508613" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000508613" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000508613</a>
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<p>In a patient (patient 8) with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#5" class="mim-tip-reference" title="Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others. <strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong> Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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/gim.2016.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27195816">Fountain et al. (2017)</a> identified a heterozygous c.1621C-T transition in the MAGEL2 gene, resulting in a gln541-to-ter (Q541X) substitution. The mutation occurred on the paternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27195816" 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>.0010 SCHAAF-YANG SYNDROME</strong>
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MAGEL2, ALA538GLU
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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> rs1013540105 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1013540105;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/rs1013540105?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=rs1013540105" 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=rs1013540105" 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=RCV001090063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001090063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001090063</a>
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<p>In an 18-year-old woman (patient 2) with Schaaf-Yang syndrome (SHFYNG; <a href="/entry/615547">615547</a>), <a href="#12" class="mim-tip-reference" title="Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L., Amudhavalli, S., Pacio-Miguez, M., Palomares-Bralo, M., Garcia-Minaur, S., Santos-Simarro, F., Powis, Z., Alcaraz, W., Tang, S., Jurgens, J., Barry, B., England, E., Engle, E., Hess, J., Lebel, R. R. <strong>MAGEL2-related disorders: a study and case series.</strong> Clin. Genet. 96: 493-505, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31397880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31397880</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31397880[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/10.1111/cge.13620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31397880">Patak et al. (2019)</a> identified a de novo heterozygous c.1613C-A transversion (c.1613C-A, NM_019066.4) in the MAGEL2 gene, resulting in an ala538-to-glu (A538E) substitution. The mutation, which was found by whole-exome sequencing, was on the paternal allele; it was not found in the ExAC or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31397880" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bayat2018" class="mim-anchor"></a>
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Bayat, A., Bayat, M., Lozoya, R., Schaaf, C. P.
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<strong>Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infant with Schaaf-Yang syndrome--expanding the phenotypic spectrum.</strong>
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Europ. J. Med. Genet. 61: 627-630, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29660409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29660409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29660409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2018.04.007" target="_blank">Full Text</a>]
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Bischof, J. M., Stewart, C. L., Wevrick, R.
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<strong>Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.</strong>
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Hum. Molec. Genet. 16: 2713-2739, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17728320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17728320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17728320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm225" target="_blank">Full Text</a>]
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<a id="Boccaccio1999" class="mim-anchor"></a>
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Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F.
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<strong>The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.</strong>
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Hum. Molec. Genet. 8: 2497-2505, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.13.2497" target="_blank">Full Text</a>]
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Chitayat, D., Hall, J. G., Couch, R. M., Phang, M. S., Baldwin, V. J.
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<strong>Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2240046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2240046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2240046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320370116" target="_blank">Full Text</a>]
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<a id="Fountain2017" class="mim-anchor"></a>
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Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others.
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<strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong>
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Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27195816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27195816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27195816[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=27195816" 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/gim.2016.53" target="_blank">Full Text</a>]
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<a id="Jobling2018" class="mim-anchor"></a>
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Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., and 14 others.
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<strong>Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2017-105222" target="_blank">Full Text</a>]
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Kozlov, S. V., Bogenpohl, J. W., Howell, M. P., Wevrick, R., Panda, S., Hogenesch, J. B., Muglia, L. J., Van Gelder, R. N., Herzog, E. D., Stewart, C. L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17893678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17893678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17893678" 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/ng2114" target="_blank">Full Text</a>]
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Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S. J., Brannan, C. I., Stewart, C. L., Wevrick, R.
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<strong>Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.</strong>
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Hum. Molec. Genet. 9: 1813-1819, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R.
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<strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong>
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Hum. Molec. Genet. 14: 627-637, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi059" target="_blank">Full Text</a>]
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<a id="McCarthy2018" class="mim-anchor"></a>
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McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P.
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<strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong>
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Am. J. Med. Genet. 176A: 2564-2574, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30302899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30302899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30302899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.40650" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Mejlachowicz2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerriere, A., Melki, J.
|
|
<strong>Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis.</strong>
|
|
Am. J. Hum. Genet. 97: 616-620, 2015.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26365340[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=26365340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.08.010" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Patak2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L., Amudhavalli, S., Pacio-Miguez, M., Palomares-Bralo, M., Garcia-Minaur, S., Santos-Simarro, F., Powis, Z., Alcaraz, W., Tang, S., Jurgens, J., Barry, B., England, E., Engle, E., Hess, J., Lebel, R. R.
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<strong>MAGEL2-related disorders: a study and case series.</strong>
|
|
Clin. Genet. 96: 493-505, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31397880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31397880</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31397880[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=31397880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13620" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Perry2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others.
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<strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong>
|
|
Nature 514: 92-97, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25231870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25231870</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25231870[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=25231870" 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/nature13545" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Schaaf2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y.
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|
<strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong>
|
|
Nature Genet. 45: 1405-1408, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24076603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24076603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24076603" 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.2776" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Schaller2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schaller, F., Watrin, F., Sturny, R., Massacrier, A., Szepetowski, P., Muscatelli, F.
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<strong>A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.</strong>
|
|
Hum. Molec. Genet. 19: 4895-4905, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20876615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20876615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20876615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq424" target="_blank">Full Text</a>]
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Soden2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., and 15 others.
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<strong>Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.</strong>
|
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Sci. Transl. Med. 6: 265ra168, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25473036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25473036</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25473036[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=25473036" 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/10.1126/scitranslmed.3010076" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Urreizti2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Urreizti, R., Cueto-Gonzalez, A. M., Franco-Valls, H., Mort-Farre, S., Roca-Ayats, N., Ponomarenko, J., Cozzuto, L., Company, C., Bosio, M., Ossowski, S., Montfort, M., Hecht, J., Tizzano, E. F., Cormand, B., Vilageliu, L., Opitz, J. M., Neri, G., Grinberg, D., Balcells, S.
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<strong>A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes.</strong>
|
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Sci. Rep. 7: 44138, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28281571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28281571</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28281571[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=28281571" 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/srep44138" target="_blank">Full Text</a>]
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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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<a id="contributors" class="mim-anchor"></a>
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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 : 11/22/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 05/04/2020<br>Cassandra L. Kniffin - updated : 09/25/2017<br>George E. Tiller - updated : 04/25/2017<br>Cassandra L. Kniffin - updated : 4/30/2015<br>Ada Hamosh - updated : 12/3/2014<br>Cassandra L. Kniffin - updated : 11/27/2013<br>George E. Tiller - updated : 2/12/2008<br>Victor A. McKusick - updated : 10/18/2007
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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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George E. Tiller : 9/21/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="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 : 03/22/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/20/2023<br>carol : 11/22/2021<br>carol : 05/06/2020<br>carol : 05/05/2020<br>ckniffin : 05/04/2020<br>carol : 09/18/2018<br>mgross : 07/24/2018<br>alopez : 09/26/2017<br>ckniffin : 09/25/2017<br>alopez : 04/25/2017<br>carol : 10/03/2016<br>alopez : 05/04/2015<br>ckniffin : 4/30/2015<br>carol : 4/7/2015<br>alopez : 12/3/2014<br>carol : 12/9/2013<br>carol : 12/3/2013<br>carol : 12/3/2013<br>ckniffin : 11/27/2013<br>wwang : 2/12/2008<br>alopez : 10/24/2007<br>terry : 10/18/2007<br>carol : 11/10/2003<br>alopez : 9/22/2000<br>alopez : 9/22/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605283
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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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MAGE-LIKE 2; MAGEL2
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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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NECDIN-LIKE 1; NDNL1
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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: MAGEL2</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> 1229946007;
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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: 15q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:23,643,549-23,647,867 </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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
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<tr>
|
|
<td rowspan="1">
|
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<span class="mim-font">
|
|
15q11.2
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Schaaf-Yang syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
615547
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The MAGEL2 gene encodes a ubiquitin ligase enhancer that is required for endosomal protein recycling (summary by Schaaf et al., 2013). </p>
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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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<span class="mim-text-font">
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<p>Boccaccio et al. (1999) reported the characterization of the MAGEL2 (MAGE-like-2) gene, which they identified within the critical region for Prader-Willi syndrome (PWS; 176270). By RT-PCR analysis of fibroblast and total brain RNA from normal individuals and patients with Angelman (105830) and Prader-Willi syndromes, they demonstrated that MAGEL2 is transcribed only from the paternal allele. </p><p>Lee et al. (2000) independently cloned and characterized the MAGEL2 gene, also known as NDNL1 (necdin-like-1). The MAGEL2 gene encodes a 529-amino acid protein with 51% sequence similarity to necdin (NDN; 602117). As shown by Northern blot analysis, the 4.5-kb MAGEL2 transcript is expressed predominantly in brain, the primary tissue affected in PWS, and in several fetal tissues. MAGEL2 is imprinted with monoallelic expression in control brain, and with paternal-only expression in the central nervous system, as demonstrated by its lack of expression in brain from a PWS-affected individual. The orthologous mouse gene, Magel2, is imprinted with paternal-only expression and is expressed predominantly in late developmental stages and adult brain as shown by Northern blot analysis, RT-PCR, and whole-mount RNA in situ hybridization. Magel2 distribution partially overlaps that of Ndn, with strong expression being detected in the central nervous system in midgestation mouse embryos by in situ hybridization. Lee et al. (2000) hypothesized that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Lee et al. (2005) demonstrated that necdin and Magel2 bound to and prevented proteasomal degradation of Fez1 (604825), which is implicated in axonal outgrowth and kinesin-mediated transport, and also bound to BBS4 (600374) protein in cotransfected cells. The interactions among necdin, Magel2, Fez1, and BBS4 occurred at or near centrosomes. Centrosomal or pericentriolar dysfunction has previously been implicated in BBS (209900) and may also be important in features of PWS that overlap with BBS, such as learning disabilities, hypogonadism, and obesity. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Boccaccio et al. (1999) determined that the MAGEL2 gene is intronless. </p>
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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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<span class="mim-text-font">
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<p>Boccaccio et al. (1999) identified the MAGEL2 gene within the PWS deletion region on chromosome 15q11-q13. The mouse Magel2 gene resides on chromosome 7C, within a region of conserved synteny with human 15q11-q13. </p><p>Lee et al. (2000) determined that the MAGEL2 gene is located 41 kb distal to the necdin gene (NDN; 602117). The mouse Magel2 gene is located within 150 kb of Ndn. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In 4 unrelated boys with Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified 4 different de novo heterozygous truncating mutations in the MAGEL2 gene (605283.0001-605283.0004). All mutations occurred on the paternal allele. Because the maternal allele is not normally expressed, the findings were consistent with a loss of MAGEL2 function. The mutation in the first patient was found by clinical whole-exome sequencing. Based on these results, a research database of 1,248 whole-exome sequencing cases were reviewed, and the 3 remaining cases were identified. </p><p>In 2 sisters with Schaaf-Yang syndrome, Soden et al. (2014) identified a heterozygous truncating mutation in the MAGEL2 gene (c.1996dupC; 605283.0005). The mutation was found by whole-genome sequencing and apparently resulted from gonadal mosaicism; the mutation was missed by initial whole-exome sequencing. The patients were part of a larger cohort of 100 families with neurodevelopmental disorders who underwent whole-exome or whole-genome sequencing. </p><p>In 3 fetuses, born of unrelated parents, with Schaaf-Yang syndrome manifest as arthrogryposis multiplex congenita (AMC) and death in utero, Mejlachowicz et al. (2015) identified a heterozygous truncating mutation in the MAGEL2 gene (c.1996delC; 605283.0006). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the unaffected father who inherited it from his unaffected mother. Direct Sanger sequencing of the MAGEL2 gene in 84 additional cases of AMC and/or decreased fetal motility identified another patient with a de novo heterozygous truncating mutation (c.2118delT; 605283.0007) that occurred on the paternal allele. This patient had severe hypotonia with respiratory distress and died at 2 days of age. </p><p>In 18 patients with SHFYNG, Fountain et al. (2017) identified heterozygous truncating mutations in the MAGEL2 gene (see, e.g., 605283.0005-605383.0006, 605283.0008-605283.0009). The patients were ascertained based on genotype from whole-exome or direct Sanger sequencing through multiple research-based centers or laboratories. All mutations, which were confirmed by Sanger sequencing, resulted in a truncated protein. All patients tested carried the mutation on the paternal allele, consistent with maternal imprinting of the MAGEL2 gene. In 3 families, the mutation segregated with the disorder: unaffected fathers inherited the mutation from an unaffected mother. Fountain et al. (2017) speculated that the mutations could result in a dominant-negative effect. The phenotype was highly variable, ranging from relatively mild contractures to fetal akinesia, AMC, and early death. Nucleotides c.1990-1996 include a sequence of 7 cytosines that represent a mutational hotspot: 11 individuals from 7 families had a c.1996dupC mutation (605283.0005), and 2 from the same family had a c.1996delC mutation (605283.0006). Functional studies of the variants and studies of patient cells were not performed. </p><p>Jobling et al. (2018) reported 5 patients from 3 unrelated families who were diagnosed clinically with Chitayat-Hall syndrome but were found to carry heterozygous loss-of-function mutations in the MAGEL2 gene on the paternal allele (see, e.g., 605283.0005). One of the patients was the affected sister originally reported by Chitayat et al. (1990), who was heterozygous for a complex rearrangement and partial deletion of MAGEL2. </p><p>In 5 unrelated patients with SHFYNG, Patak et al. (2019) identified heterozygous mutations in the MAGEL2 gene. The mutations were found by whole-exome sequencing and the patients were ascertained through collaborative efforts. Four patients carried frameshift or nonsense mutations, including c.1996delC, and 1 (patient 2) carried a missense variant (A538E; 605283.0010). The mutations, all of which occurred on the paternal allele, occurred de novo in 4 patients and resulted from low-level mosaicism in an unaffected father in the fifth. Functional studies of the variants and studies of patient cells were not performed. </p><p>In a patient with Schaaf-Yang syndrome and chronic intestinal pseudoobstruction, Bayat et al. (2018) sequenced the MAGEL2 gene and identified heterozygosity for the c.1996dupC mutation in the (605283.0005) in the MAGEL2 gene. </p><p>Among 78 patients with Schaaf-Yang syndrome reported by McCarthy et al. (2018), 42 had MAGEL2 mutations within a mutation hotspot region where there are 7 cytosines at nucleotides 1990-1996. The most common mutation was c.1996dupC, found in 35 patients. The authors compared the phenotypes of 2 groups of patients with Schaaf-Yang syndrome based on the locations of their MAGEL2 mutation: 35 patients with c.1996dupC and 38 patients with any truncating mutation other than c.1996dupC. Patients with c.1996dupC had more severe disease with a higher prevalence of joint contractures, feeding difficulties, and respiratory problems, as well as more severe intellectual disability/developmental delay. Mean IQ for those with c.1996dupC was 14.2 (n = 5), while those without a c.1996dupC mutation was 53.2 (n = 8). The mutation associated with the most severe phenotype, however, was deletion of a cytosine at nucleotide 1996 (c.1996delC; 605283.0006). Among the 5 patients with this mutation reported by McCarthy et al. (2018), all died prenatally or within hours after birth. </p><p><strong><em>Possible Association with Age at Menarche</em></strong></p><p>
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Perry et al. (2014) performed a metaanalysis using genomewide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, and found robust evidence (p less than 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with 3 loci (DLK1, 176290-WDR25, 618059; MKRN3, 603856-MAGEL2; and KCNK9, 605874) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. The significant paternal parent-of-origin effect in delaying age of menarche at the MKRN3-MAGEL2 locus was associated with SNP rs12148769 (p(pat) = 2.4 x 10(-6)). It was unclear which of the genes explained this menarche signal. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mammalian circadian rhythms of activity are generated within the suprachiasmatic nucleus (SCN). Transcripts from the imprinted, paternally expressed MAGEL2 gene, which maps to the chromosomal region associated with Prader-Willi syndrome (PWS; 176270), are highly enriched in the SCN. Kozlov et al. (2007) found that in mice the Magel2 message is circadianly expressed and peaks during the subjective day. Mice deficient in Magel2 expression entrain to light cycles and express normal running-wheel rhythms, but with markedly reduced amplitude of activity and increased daytime activity. These changes are associated with reductions in food intake and male fertility. Levels of orexin (602358) levels and orexin-positive neurons in the lateral hypothalamus are substantially reduced, suggesting that some of the consequences of Magel2 loss are mediated through changes in orexin signaling. The robust rhythmicity of Magel2 expression in the SCN and the altered behavioral rhythmicity of null mice revealed Magel2 to be a clock-controlled circadian output gene whose disruption results in some of the phenotypes characteristic of PWS. </p><p>Bischof et al. (2007) found that Magel2-null mice showed features similar to those of PWS in humans. There was reduced embryonic viability associated with loss of Magel2. Magel2-null mice showed neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism, including increased fasting insulin and elevated cholesterol, in adulthood. Mutant mice also showed abnormalities in the circadian pattern of feeding behavior. The findings implicated loss of the Magel2 gene in hypothalamic dysfunction. </p><p>Schaller et al. (2010) reported that a Magel2-deficient mouse strain with 50% neonatal mortality had an altered onset of suckling activity and subsequent impaired feeding, suggesting a role of MAGEL2 in the suckling deficit seen in PWS newborns. The hypothalamus of Magel2 mutant neonates showed a significant reduction in oxytocin (OT; 167050). Furthermore, injection of a specific oxytocin receptor antagonist in wildtype neonates recapitulated the feeding deficiency seen in Magel2 mutants, and a single injection of oxytocin, 3 to 5 hours after birth, rescued the phenotype of Magel2 mutant pups, allowing all of them to survive. The authors proposed that oxytocin supplementation might constitute a promising treatment for feeding difficulties in PWS neonates and potentially in other newborns with impaired feeding onset. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SCHAAF-YANG 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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MAGEL2, 1-BP DEL, 1652T
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<br />
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SNP: rs398122415,
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ClinVar: RCV000074484
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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 Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified a de novo heterozygous 1-bp deletion (c.1652delT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Val551fs) on the paternal allele. The mutation was found by whole-exome sequencing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SCHAAF-YANG 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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MAGEL2, 1-BP DEL, 1802C
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<br />
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SNP: rs398122416,
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gnomAD: rs398122416,
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ClinVar: RCV000074485
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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 an 8-year-old boy with Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified a de novo heterozygous 1-bp deletion (c.1802delC, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Pro601fs) on the paternal allele. The mutation was found by whole-exome sequencing. The patient met the classic clinical criteria for Prader-Willi syndrome. </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 SCHAAF-YANG 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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MAGEL2, 2-BP DEL, 3181AT
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<br />
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SNP: rs398122417,
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ClinVar: RCV000074486
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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 with Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified a de novo heterozygous 2-bp deletion (c.3181_3182delAT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Ile1061fs) on the paternal allele. The mutation was found by whole-exome sequencing. </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 SCHAAF-YANG 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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MAGEL2, GLN1024TER
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<br />
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SNP: rs398122418,
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ClinVar: RCV000074487, RCV000285006
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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 19-year-old boy with Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified a de novo heterozygous c.3124C-T transition (c.3124C-T, NM_019066.4) in the MAGEL2 gene, resulting in a gln1024-to-ter (Q1024X) substitution on the paternal allele. The mutation was found by whole-exome sequencing. </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 SCHAAF-YANG 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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MAGEL2, 1-BP DUP, 1996C
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<br />
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SNP: rs770374710,
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gnomAD: rs770374710,
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ClinVar: RCV000170356, RCV000380351, RCV000622753, RCV002252015, RCV002273971, RCV002277321, RCV003458348
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters with Schaaf-Yang syndrome (SHFYNG; 615547), Soden et al. (2014) identified a heterozygous 1-bp duplication (c.1996dupC) in the MAGEL2 gene, predicted to result in a frameshift, premature termination (Gln666ProfsTer47), and a loss of function. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, was undetectable in the parents, suggesting gonadal mosaicism of this paternally expressed gene. </p><p>Fountain et al. (2017) identified a heterozygous c.1996dupC mutation in 11 patients with SHFYNG from 7 unrelated families; in 5 of these patients the mutation occurred de novo. All of these patients were ascertained based on genotype from whole-exome or direct Sanger sequencing through multiple research-based centers or laboratories. All mutations were confirmed by Sanger sequencing. </p><p>In a patient with Schaaf-Yang syndrome, who had been clinically diagnosed with Chitayat-Hall syndrome, Jobling et al. (2018) identified heterozygosity for the c.1996dupC mutation in the MAGEL2 gene. </p><p>Among 78 patients with Schaaf-Yang syndrome reported by McCarthy et al. (2018), 35 (45%) had the c.1996dupC mutation in the MAGEL2 gene. The authors compared these patients to 38 patients with MAGEL2 mutations in other locations and found that patients with c.1996dupC had a higher prevalence of joint contractures, feeding difficulties, and respiratory problems, as well as more severe intellectual disability/developmental delay. </p><p>In a patient with Schaaf-Yang syndrome and chronic intestinal pseudoobstruction, Bayat et al. (2018) identified heterozygosity for the c.1996dupC in the MAGEL2 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 SCHAAF-YANG 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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MAGEL2, 1-BP DEL, 1996C
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<br />
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SNP: rs770374710,
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gnomAD: rs770374710,
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ClinVar: RCV000508606, RCV001257380, RCV001386664
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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 3 fetuses, born of unrelated parents, with Schaaf-Yang syndrome (SHFYNG; 615547) manifest as arthrogryposis multiplex congenita (AMC) and death in utero, Mejlachowicz et al. (2015) identified a heterozygous 1-bp deletion (c.1996delC, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Gln666SerfsTer36). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the unaffected father who had inherited it from his unaffected mother. The mutation was not found in the dbSNP (build 144) or Exome Sequencing Project database. Skeletal muscle derived from one of the fetuses showed markedly decreased expression of the paternal MAGEL2 allele, as well as lack of MAGEL2 expression from the maternal allele. </p><p>Fountain et al. (2017) identified a heterozygous c.1996delC mutation in the MAGEL2 gene in 2 fetal sibs (patients 5 and 6) with SHFYNG manifest as AMC. The mutation was inherited from the unaffected father who had inherited it from his unaffected mother. </p><p>Of 78 patients with Schaaf-Yang syndrome, McCarthy et al. (2018) found that 5 had the c.1996delC mutation in the MAGEL2 gene. These patients were severely affected, dying either in utero or within a few hours after birth. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 SCHAAF-YANG 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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MAGEL2, 1-BP DEL, 2118T
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<br />
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SNP: rs1555374227,
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ClinVar: RCV000508643
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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 girl, born of unrelated parents, with Schaaf-Yang syndrome (SHFYNG; 615547) manifest as arthrogryposis multiplex congenita (AMC) and resulting in death at 2 days of age, Mejlachowicz et al. (2015) identified a de novo heterozygous 1-bp deletion (c.2118delT, NM_019066.4) in the MAGEL2 gene, resulting in a frameshift and premature termination (Leu708TrpfsTer7). The mutation, which occurred on the paternal allele, was found by direct Sanger sequencing of the MAGEL2 gene in 84 cases of AMC and/or decreased fetal motility. The mutation was not found in the dbSNP (build 144) or Exome Sequencing Project databases. Marked reduction of MAGEL2 expression was observed in the affected individual. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 SCHAAF-YANG 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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MAGEL2, GLN638TER
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<br />
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SNP: rs797044883,
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ClinVar: RCV000190699, RCV000238706, RCV000508676, RCV000762935, RCV003407693
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</span>
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<span class="mim-text-font">
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<p>In a 19-year-old Spanish woman (patient 7) with Schaaf-Yang syndrome (SHFYNG; 615547), Urreizti et al. (2017) identified a de novo heterozygous c.1912C-T transition in the MAGEL2 gene, resulting in a gln638-to-ter (Q638X) substitution. Thr mutation, which was found by whole-exome sequencing, occurred on the paternal chromosome. </p><p>In 1-year-old boy (patient 4) with SHFYNG, Fountain et al. (2017) identified a de novo heterozygous Q638X mutation in the MAGEL2 gene. </p>
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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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<h4>
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<span class="mim-font">
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<strong>.0009 SCHAAF-YANG 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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MAGEL2, GLN541TER
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<br />
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SNP: rs1555374290,
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ClinVar: RCV000508613
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (patient 8) with Schaaf-Yang syndrome (SHFYNG; 615547), Fountain et al. (2017) identified a heterozygous c.1621C-T transition in the MAGEL2 gene, resulting in a gln541-to-ter (Q541X) substitution. The mutation occurred on the paternal allele. </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>.0010 SCHAAF-YANG 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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MAGEL2, ALA538GLU
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<br />
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SNP: rs1013540105,
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gnomAD: rs1013540105,
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ClinVar: RCV001090063
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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 an 18-year-old woman (patient 2) with Schaaf-Yang syndrome (SHFYNG; 615547), Patak et al. (2019) identified a de novo heterozygous c.1613C-A transversion (c.1613C-A, NM_019066.4) in the MAGEL2 gene, resulting in an ala538-to-glu (A538E) substitution. The mutation, which was found by whole-exome sequencing, was on the paternal allele; it was not found in the ExAC or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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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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Bayat, A., Bayat, M., Lozoya, R., Schaaf, C. P.
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<strong>Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infant with Schaaf-Yang syndrome--expanding the phenotypic spectrum.</strong>
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Europ. J. Med. Genet. 61: 627-630, 2018.
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[PubMed: 29660409]
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[Full Text: https://doi.org/10.1016/j.ejmg.2018.04.007]
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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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Bischof, J. M., Stewart, C. L., Wevrick, R.
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<strong>Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.</strong>
|
|
Hum. Molec. Genet. 16: 2713-2739, 2007.
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[PubMed: 17728320]
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[Full Text: https://doi.org/10.1093/hmg/ddm225]
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<li>
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<p class="mim-text-font">
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Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F.
|
|
<strong>The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.</strong>
|
|
Hum. Molec. Genet. 8: 2497-2505, 1999.
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[PubMed: 10556298]
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[Full Text: https://doi.org/10.1093/hmg/8.13.2497]
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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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Chitayat, D., Hall, J. G., Couch, R. M., Phang, M. S., Baldwin, V. J.
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|
<strong>Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.</strong>
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Am. J. Med. Genet. 37: 65-70, 1990.
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[PubMed: 2240046]
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[Full Text: https://doi.org/10.1002/ajmg.1320370116]
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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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Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., and 27 others.
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|
<strong>The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.</strong>
|
|
Genet. Med. 19: 45-52, 2017. Note: Erratum: Genet. Med. 18: 1066 only, 2016.
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[PubMed: 27195816]
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[Full Text: https://doi.org/10.1038/gim.2016.53]
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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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Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., and 14 others.
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|
<strong>Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders.</strong>
|
|
J. Med. Genet. 55: 316-321, 2018.
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[PubMed: 29599419]
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[Full Text: https://doi.org/10.1136/jmedgenet-2017-105222]
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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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Kozlov, S. V., Bogenpohl, J. W., Howell, M. P., Wevrick, R., Panda, S., Hogenesch, J. B., Muglia, L. J., Van Gelder, R. N., Herzog, E. D., Stewart, C. L.
|
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<strong>The imprinted gene Magel2 regulates normal circadian output.</strong>
|
|
Nature Genet. 39: 1266-1272, 2007.
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[PubMed: 17893678]
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[Full Text: https://doi.org/10.1038/ng2114]
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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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Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S. J., Brannan, C. I., Stewart, C. L., Wevrick, R.
|
|
<strong>Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.</strong>
|
|
Hum. Molec. Genet. 9: 1813-1819, 2000.
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[PubMed: 10915770]
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[Full Text: https://doi.org/10.1093/hmg/9.12.1813]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R.
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<strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong>
|
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Hum. Molec. Genet. 14: 627-637, 2005.
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[PubMed: 15649943]
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[Full Text: https://doi.org/10.1093/hmg/ddi059]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y., Schaaf, C. P.
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<strong>Schaaf-Yang syndrome overview: report of 78 individuals.</strong>
|
|
Am. J. Med. Genet. 176A: 2564-2574, 2018.
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[PubMed: 30302899]
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[Full Text: https://doi.org/10.1002/ajmg.a.40650]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerriere, A., Melki, J.
|
|
<strong>Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis.</strong>
|
|
Am. J. Hum. Genet. 97: 616-620, 2015.
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[PubMed: 26365340]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.08.010]
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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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Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L., Amudhavalli, S., Pacio-Miguez, M., Palomares-Bralo, M., Garcia-Minaur, S., Santos-Simarro, F., Powis, Z., Alcaraz, W., Tang, S., Jurgens, J., Barry, B., England, E., Engle, E., Hess, J., Lebel, R. R.
|
|
<strong>MAGEL2-related disorders: a study and case series.</strong>
|
|
Clin. Genet. 96: 493-505, 2019.
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[PubMed: 31397880]
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[Full Text: https://doi.org/10.1111/cge.13620]
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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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Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others.
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<strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong>
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Nature 514: 92-97, 2014.
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[PubMed: 25231870]
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[Full Text: https://doi.org/10.1038/nature13545]
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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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Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., Peters, B. A., McElwain, M. A., Drmanac, R., Beaudet, A. L., Caskey, C. T., Yang, Y.
|
|
<strong>Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.</strong>
|
|
Nature Genet. 45: 1405-1408, 2013.
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[PubMed: 24076603]
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[Full Text: https://doi.org/10.1038/ng.2776]
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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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Schaller, F., Watrin, F., Sturny, R., Massacrier, A., Szepetowski, P., Muscatelli, F.
|
|
<strong>A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.</strong>
|
|
Hum. Molec. Genet. 19: 4895-4905, 2010.
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[PubMed: 20876615]
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[Full Text: https://doi.org/10.1093/hmg/ddq424]
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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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Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., and 15 others.
|
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<strong>Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.</strong>
|
|
Sci. Transl. Med. 6: 265ra168, 2014.
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[PubMed: 25473036]
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[Full Text: https://doi.org/10.1126/scitranslmed.3010076]
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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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Urreizti, R., Cueto-Gonzalez, A. M., Franco-Valls, H., Mort-Farre, S., Roca-Ayats, N., Ponomarenko, J., Cozzuto, L., Company, C., Bosio, M., Ossowski, S., Montfort, M., Hecht, J., Tizzano, E. F., Cormand, B., Vilageliu, L., Opitz, J. M., Neri, G., Grinberg, D., Balcells, S.
|
|
<strong>A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes.</strong>
|
|
Sci. Rep. 7: 44138, 2017. Note: Electronic Article.
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[PubMed: 28281571]
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[Full Text: https://doi.org/10.1038/srep44138]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
|
</span>
|
|
</div>
|
|
<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 : 11/22/2021<br>Cassandra L. Kniffin - updated : 05/04/2020<br>Cassandra L. Kniffin - updated : 09/25/2017<br>George E. Tiller - updated : 04/25/2017<br>Cassandra L. Kniffin - updated : 4/30/2015<br>Ada Hamosh - updated : 12/3/2014<br>Cassandra L. Kniffin - updated : 11/27/2013<br>George E. Tiller - updated : 2/12/2008<br>Victor A. McKusick - updated : 10/18/2007
|
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carol : 03/22/2023<br>alopez : 03/20/2023<br>carol : 11/22/2021<br>carol : 05/06/2020<br>carol : 05/05/2020<br>ckniffin : 05/04/2020<br>carol : 09/18/2018<br>mgross : 07/24/2018<br>alopez : 09/26/2017<br>ckniffin : 09/25/2017<br>alopez : 04/25/2017<br>carol : 10/03/2016<br>alopez : 05/04/2015<br>ckniffin : 4/30/2015<br>carol : 4/7/2015<br>alopez : 12/3/2014<br>carol : 12/9/2013<br>carol : 12/3/2013<br>carol : 12/3/2013<br>ckniffin : 11/27/2013<br>wwang : 2/12/2008<br>alopez : 10/24/2007<br>terry : 10/18/2007<br>carol : 11/10/2003<br>alopez : 9/22/2000<br>alopez : 9/22/2000
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