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Entry
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- *601240 - GUANIDINOACETATE METHYLTRANSFERASE; GAMT
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- OMIM
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<p>
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<span class="h4">*601240</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601240">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div 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-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=ENSG00000130005;t=ENST00000252288" 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=2593" 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=601240" 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 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="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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<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=ENSG00000130005;t=ENST00000252288" 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_000156,NM_138924" 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_000156" 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=601240" 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=03142&isoform_id=03142_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/GAMT" 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/1212946,2498404,3342733,4503909,6014689,16876974,17389854,20336212,30582907,119589911,119589912,158259953,194387078,211947889" 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/Q14353" 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=2593" 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=ENSG00000130005;t=ENST00000252288" 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=GAMT" 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=GAMT" 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+2593" 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/GAMT" 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:2593" 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/2593" 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=chr19&hgg_gene=ENST00000252288.8&hgg_start=1397026&hgg_end=1401542&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:4136" 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:4136" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gamt" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601240[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=601240[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/GAMT/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/ENSG00000130005" 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=GAMT" 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=GAMT" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/GAMT" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GAMT&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/PA28549" 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:4136" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1098221" 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/GAMT#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:1098221" 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/2593/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=2593" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-051030-97" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:601240" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2593" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=GAMT&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> 124239003<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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601240
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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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GUANIDINOACETATE METHYLTRANSFERASE; GAMT
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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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<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=GAMT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GAMT</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/19/52?start=-3&limit=10&highlight=52">19p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:1397026-1401542&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'})">19:1,397,026-1,401,542</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">
|
|
<span class="mim-font">
|
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<a href="/geneMap/19/52?start=-3&limit=10&highlight=52">
|
|
19p13.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Cerebral creatine deficiency syndrome 2
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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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|
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<a href="/entry/612736"> 612736 </a>
|
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|
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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 recessive">AR</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/601240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<p>Amidinotransferase converts glycine to guanidinoacetate; guanidinoacetate methyltransferase (GAMT) converts the latter to creatine with S-adenosylmethionine as the methyl donor.</p>
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<p><a href="#6" class="mim-tip-reference" title="Isbrandt, D., von Figura, K. <strong>Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.</strong> Biochim. Biophys. Acta 1264: 265-267, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8547310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8547310</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00184-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8547310">Isbrandt and von Figura (1995)</a> isolated the cDNA of human GAMT from a liver cDNA library with the aid of a partial cDNA of rat GAMT. It contained an open reading frame of 711 nucleotides. <a href="#10" class="mim-tip-reference" title="Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. <strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong> Am. J. Hum. Genet. 58: 914-922, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>]" pmid="8651275">Stockler et al. (1996)</a> used this cDNA as a probe for Northern blot analysis of RNA from liver, leukocytes, and fibroblasts of controls. They detected a single GAMT-RNA species of 1.1 kb in all 3 tissues. In leukocytes and fibroblasts, the frequencies of GAMT-RNA were 5- and 17-fold lower, respectively, than in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8651275+8547310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By somatic cell hybridization and radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Chae, Y.-J., Chung, C.-E., Kim, B.-J., Lee, M.-H., Lee, H. <strong>The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.</strong> Genomics 49: 162-164, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9570966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9570966</a>] [<a href="https://doi.org/10.1006/geno.1998.5236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9570966">Chae et al. (1998)</a> mapped the GAMT gene to chromosome 19p13.3. By interspecific backcross analysis, they mapped the mouse Gamt gene to chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9570966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. <strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong> Am. J. Hum. Genet. 58: 914-922, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>]" pmid="8651275">Stockler et al. (1996)</a> studied 2 patients with cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>) resulting from GAMT deficiency. Patient 1 had inherited from his father a GAMT allele with a 327G-A mutation (<a href="#0001">601240.0001</a>) and from his mother an allele with insertion of 13 bp after nucleotide 309 (<a href="#0002">601240.0002</a>). Patient 2 was homozygous for the 327G-A mutation. The parents of both patients were heterozygous for the 327G-A mutation. (The numbering of nucleotides followed the sequence reported by <a href="#6" class="mim-tip-reference" title="Isbrandt, D., von Figura, K. <strong>Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.</strong> Biochim. Biophys. Acta 1264: 265-267, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8547310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8547310</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00184-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8547310">Isbrandt and von Figura (1995)</a>.) The 327G-A mutation occupied position -1 of the 5-prime splice site of what was thought to be intron 2. The G in this position is known to be critical for the stability of basepairing between the splice site and the complementary region of U1snRNA and is a frequent target of mutations of 5-prime splice sites. The mutation resulted in the formation of 2 transcripts in each of the 2 patients. The 13-bp insertion within exon 2 in patient 1 is a direct repeat, which suggested to <a href="#10" class="mim-tip-reference" title="Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. <strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong> Am. J. Hum. Genet. 58: 914-922, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>]" pmid="8651275">Stockler et al. (1996)</a> that it may have arisen from slipped mispairing during replication. This allele likewise produced 2 alternative transcripts. Patients 1 and 2 were of German and Turkish extraction, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8651275+8547310" 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 family members and an isolated patient with GAMT deficiency, <a href="#2" class="mim-tip-reference" title="Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M. <strong>Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.</strong> Am. J. Med. Genet. 133A: 122-127, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15651030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15651030</a>] [<a href="https://doi.org/10.1002/ajmg.a.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15651030">Caldeira Araujo et al. (2005)</a> identified mutations in the GAMT gene (<a href="#0003">601240.0003</a>-<a href="#0004">601240.0004</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15651030" 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 infants with GAMT deficiency, <a href="#4" class="mim-tip-reference" title="Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M. <strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong> Molec. Genet. Metab. 134: 60-64, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34389248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34389248</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34389248">Hart et al. (2021)</a> identified homozygous or compound heterozygous mutations in the GAMT gene (<a href="#0006">601240.0006</a>-<a href="#0008">601240.0008</a>). Both infants were initially identified by newborn screening which showed elevated guanidinoacetate level on a bloodspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34389248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Schmidt, A., Marescau, B., Boehm, E. A., Renema, W. K. J., Peco, R., Das, A., Steinfeld, R., Chan, S., Wallis, J., Davidoff, M., Ullrich, K., Waldschutz, R., Heerschap, A., De Deyn, P. P., Neubauer, S., Isbrandt, D. <strong>Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.</strong> Hum. Molec. Genet. 13: 905-921, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15028668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15028668</a>] [<a href="https://doi.org/10.1093/hmg/ddh112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15028668">Schmidt et al. (2004)</a> generated a knockout mouse model for GAMT deficiency by gene targeting in embryonic stem cells. Gamt -/- mice had markedly increased guanidinoacetate (GAA) and reduced creatine and creatinine levels in brain, serum, and urine, similar to human GAMT patients. In vivo 31P magnetic resonance spectroscopy showed high levels of PGAA and reduced levels of creatine phosphate in heart, skeletal muscle, and brain. GAMT deficiency was associated with increased neonatal mortality, muscular hypotonia, decreased male fertility, and a non-leptin-mediated lifelong reduction in body weight due to reduced body fat mass. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The report by <a href="#5" class="mim-tip-reference" title="Ide, T., Brown-Endres, L., Chu, K., Ongusaha, P. P., Ohtsuka, T., El-Deiry, W. S., Aaronson, S. A., Lee, S. W. <strong>GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.</strong> Molec. Cell 36: 379-392, 2009. Note: Retraction: Molec. Cell 51: 552 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19917247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19917247</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.09.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19917247">Ide et al. (2009)</a> that GAMT is critical for the adaptive response to nutrient stress was retracted by the authors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19917247" 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601240[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338735;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/rs80338735?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=rs80338735" 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=rs80338735" 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 child of German extraction with a severe neurologic syndrome due to cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>), <a href="#10" class="mim-tip-reference" title="Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. <strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong> Am. J. Hum. Genet. 58: 914-922, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>]" pmid="8651275">Stockler et al. (1996)</a> demonstrated compound heterozygosity for a G-to-A transition in the last nucleotide of exon 2 (nucleotide 327) and a direct 13-bp duplication in exon 2 of the GAMT gene (<a href="#0002">601240.0002</a>). A second child of Turkish extraction was homozygous for the 327G-A mutation. The mutations resulted in the generation of alternative transcripts for the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651275" 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="#9" class="mim-tip-reference" title="Schulze, A., Hess, T., Wevers, R., Mayatepek, E., Bachert, P., Marescau, B., Knopp, M. V., De Deyn, P. P., Bremer, H. J., Rating, D. <strong>Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.</strong> J. Pediat. 131: 626-631, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9386672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9386672</a>] [<a href="https://doi.org/10.1016/s0022-3476(97)70075-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9386672">Schulze et al. (1997)</a> found this mutation in homozygosity in a female infant with GAMT deficiency born of Kurdish first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9386672" 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">rs80338736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338736;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=rs80338736" 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=rs80338736" 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=RCV000008800 OR RCV000534459 OR RCV001787373 OR RCV002433449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008800, RCV000534459, RCV001787373, RCV002433449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008800...</a>
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<p>For discussion of the 13-bp duplication in exon 2 of the GAMT gene (309dup13) that was found in compound heterozygous state in a patient with a severe neurologic syndrome due to cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>) by <a href="#10" class="mim-tip-reference" title="Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. <strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong> Am. J. Hum. Genet. 58: 914-922, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>]" pmid="8651275">Stockler et al. (1996)</a>, see <a href="#0001">601240.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338734;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/rs80338734?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=rs80338734" 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=rs80338734" 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=RCV000008801 OR RCV000799554 OR RCV000986201 OR RCV002251891 OR RCV002354153" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008801, RCV000799554, RCV000986201, RCV002251891, RCV002354153" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008801...</a>
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<p>In 2 sisters and their male third cousin from a relatively small community in Portugal with cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>), <a href="#2" class="mim-tip-reference" title="Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M. <strong>Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.</strong> Am. J. Med. Genet. 133A: 122-127, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15651030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15651030</a>] [<a href="https://doi.org/10.1002/ajmg.a.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15651030">Caldeira Araujo et al. (2005)</a> identified a homozygous 59G-C transversion in exon 1 of the GAMT gene, resulting in a trp20-to-ser (W20S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15651030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Almeida, L. S., Vilarinho, L., Darmin, P. S., Rosenberg, E. H., Martinez-Munoz, C., Jakobs, C., Salomons, G. S. <strong>A prevalent pathogenic GAMT mutation (c.59G-C) in Portugal.</strong> Molec. Genet. Metab. 91: 1-6, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336114</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.01.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17336114">Almeida et al. (2007)</a> noted that of the 10 reported Portuguese patients with CCDS2, the W20S mutation was found in homozygosity in 8 and in compound heterozygosity in 1. They found that the variant had an overall carrier rate in Portugal of 0.8%, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909272 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909272;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/rs121909272?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=rs121909272" 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=rs121909272" 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=RCV000008802 OR RCV001762039 OR RCV004700204" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008802, RCV001762039, RCV004700204" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008802...</a>
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<p>In an isolated case of cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>) from a relatively small community in Portugal, <a href="#2" class="mim-tip-reference" title="Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M. <strong>Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.</strong> Am. J. Med. Genet. 133A: 122-127, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15651030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15651030</a>] [<a href="https://doi.org/10.1002/ajmg.a.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15651030">Caldeira Araujo et al. (2005)</a> identified a homozygous 506G-A transition in exon 5 of the GAMT gene, resulting in a cys169-to-tyr (C169Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15651030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894694 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894694;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=rs104894694" 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=rs104894694" 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=RCV000008803 OR RCV001851745" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008803, RCV001851745" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008803...</a>
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<p>In a North African patient with cerebral creatine deficiency syndrome-2 and severe mental retardation (CCDS2; <a href="/entry/612736">612736</a>), born of consanguineous parents, <a href="#7" class="mim-tip-reference" title="Lion-Francois, L., Cheillan, D., Pitelet, G., Acquaviva-Bourdain, C., Bussy, G., Cotton, F., Guibaud, L., Gerard, D., Rivier, C., Vianey-Saban, C., Jakobs, C., Salomons, G. S., des Portes, V. <strong>High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.</strong> Neurology 67: 1713-1714, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101918</a>] [<a href="https://doi.org/10.1212/01.wnl.0000239153.39710.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17101918">Lion-Francois et al. (2006)</a> identified a 148A-C transversion in the GAMT gene, resulting in a met50-to-leu (M50L) substitution. The patient had delayed onset of walking, seizures, and autistic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17101918" 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>.0006 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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GAMT, 1-BP DUP, 609G
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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> rs745740974 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs745740974;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/rs745740974?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=rs745740974" 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=rs745740974" 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=RCV001761398 OR RCV002260948" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001761398, RCV002260948" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001761398...</a>
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<p>In an infant with cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>), <a href="#4" class="mim-tip-reference" title="Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M. <strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong> Molec. Genet. Metab. 134: 60-64, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34389248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34389248</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34389248">Hart et al. (2021)</a> identified homozygosity for a 1-bp duplication (c.609dupG) in the GAMT gene, predicted to result in a frameshift and extension of the protein beyond the canonical stop site (Arg204GlufsTer63). The mutation was identified by sequencing of the GAMT gene. The patient was initially identified by abnormal newborn screening showing an elevated guanidinoacetate level on a bloodspot. A 6-year-old sib of this patient was noted to have developmental delay, no speech, and hypotonia of unknown etiology; molecular analysis confirmed that the sib was homozygous for the c.609dupG mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34389248" 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>.0007 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs370421531 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs370421531;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/rs370421531?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=rs370421531" 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=rs370421531" 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=RCV000187569 OR RCV000316896 OR RCV000539751 OR RCV003907657" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000187569, RCV000316896, RCV000539751, RCV003907657" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000187569...</a>
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<p>In an infant with cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>), <a href="#4" class="mim-tip-reference" title="Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M. <strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong> Molec. Genet. Metab. 134: 60-64, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34389248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34389248</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34389248">Hart et al. (2021)</a> identified compound heterozygosity for 2 mutations in the GAMT gene, a c.522G-A transition, resulting in a trp174-to-ter (W174X) substitution, and a c.327G-A transition, predicted to cause a splicing abnormality. The mutations were identified by sequencing of the GAMT gene, and the parents were shown to be carriers. The c.327G-A transition, which affected a consensus splice site, was predicted to cause an insertion of 44 nucleotides or deletion of 146 nucleotides, both resulting in a frameshift and premature termination. The patient was initially identified by abnormal newborn screening showing an elevated guanidinoacetate level on a bloodspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34389248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020141 OR RCV000187564 OR RCV000655367 OR RCV002513136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020141, RCV000187564, RCV000655367, RCV002513136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020141...</a>
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<p>For discussion of the c.327G-A transition in the GAMT gene, predicted to cause a splicing abnormality, that was found in compound heterozygous state in an infant with cerebral creatine deficiency syndrome-2 (CCDS2; <a href="/entry/612736">612736</a>) by <a href="#4" class="mim-tip-reference" title="Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M. <strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong> Molec. Genet. Metab. 134: 60-64, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34389248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34389248</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34389248">Hart et al. (2021)</a>, see <a href="#0007">601240.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34389248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Almeida2007" class="mim-anchor"></a>
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Almeida, L. S., Vilarinho, L., Darmin, P. S., Rosenberg, E. H., Martinez-Munoz, C., Jakobs, C., Salomons, G. S.
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<strong>A prevalent pathogenic GAMT mutation (c.59G-C) in Portugal.</strong>
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Molec. Genet. Metab. 91: 1-6, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336114" 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.ymgme.2007.01.005" target="_blank">Full Text</a>]
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Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M.
|
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<strong>Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.</strong>
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Am. J. Med. Genet. 133A: 122-127, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15651030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15651030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15651030" 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.30226" target="_blank">Full Text</a>]
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Chae, Y.-J., Chung, C.-E., Kim, B.-J., Lee, M.-H., Lee, H.
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<strong>The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.</strong>
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Genomics 49: 162-164, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9570966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9570966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9570966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5236" target="_blank">Full Text</a>]
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Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M.
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<strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong>
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Molec. Genet. Metab. 134: 60-64, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34389248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34389248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34389248" 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.ymgme.2021.07.012" target="_blank">Full Text</a>]
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Ide, T., Brown-Endres, L., Chu, K., Ongusaha, P. P., Ohtsuka, T., El-Deiry, W. S., Aaronson, S. A., Lee, S. W.
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<strong>GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.</strong>
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Molec. Cell 36: 379-392, 2009. Note: Retraction: Molec. Cell 51: 552 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19917247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19917247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19917247" 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.molcel.2009.09.031" target="_blank">Full Text</a>]
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Isbrandt, D., von Figura, K.
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<strong>Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.</strong>
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Biochim. Biophys. Acta 1264: 265-267, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8547310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8547310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8547310" 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/10.1016/0167-4781(95)00184-0" target="_blank">Full Text</a>]
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Lion-Francois, L., Cheillan, D., Pitelet, G., Acquaviva-Bourdain, C., Bussy, G., Cotton, F., Guibaud, L., Gerard, D., Rivier, C., Vianey-Saban, C., Jakobs, C., Salomons, G. S., des Portes, V.
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<strong>High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.</strong>
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Neurology 67: 1713-1714, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17101918" 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/10.1212/01.wnl.0000239153.39710.81" target="_blank">Full Text</a>]
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Schmidt, A., Marescau, B., Boehm, E. A., Renema, W. K. J., Peco, R., Das, A., Steinfeld, R., Chan, S., Wallis, J., Davidoff, M., Ullrich, K., Waldschutz, R., Heerschap, A., De Deyn, P. P., Neubauer, S., Isbrandt, D.
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|
<strong>Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.</strong>
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Hum. Molec. Genet. 13: 905-921, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15028668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15028668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028668" 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/ddh112" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Schulze1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schulze, A., Hess, T., Wevers, R., Mayatepek, E., Bachert, P., Marescau, B., Knopp, M. V., De Deyn, P. P., Bremer, H. J., Rating, D.
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<strong>Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.</strong>
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J. Pediat. 131: 626-631, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9386672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9386672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9386672" 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/s0022-3476(97)70075-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Stockler1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K.
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<strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong>
|
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Am. J. Hum. Genet. 58: 914-922, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Hilary J. Vernon - updated : 06/23/2022
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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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Hilary J. Vernon - updated : 04/17/2020<br>Patricia A. Hartz - updated : 9/28/2010<br>Cassandra L. Kniffin - updated : 2/7/2008<br>George E. Tiller - updated : 9/18/2006<br>Victor A. McKusick - updated : 3/23/2005<br>Ada Hamosh - updated : 2/6/2001<br>Carol A. Bocchini - updated : 3/7/1999<br>Victor A. McKusick - updated : 1/21/1998<br>Moyra Smith - updated : 12/18/1997
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/30/1996
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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 : 06/23/2022
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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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carol : 04/17/2020<br>carol : 02/11/2015<br>mcolton : 2/10/2015<br>carol : 3/21/2014<br>carol : 7/17/2013<br>ckniffin : 7/16/2013<br>mgross : 9/28/2010<br>terry : 9/28/2010<br>terry : 4/20/2009<br>terry : 4/20/2009<br>carol : 4/20/2009<br>wwang : 2/20/2008<br>ckniffin : 2/7/2008<br>alopez : 9/18/2006<br>tkritzer : 3/23/2005<br>terry : 3/23/2005<br>carol : 3/17/2004<br>mcapotos : 2/9/2001<br>terry : 2/6/2001<br>terry : 3/9/1999<br>carol : 3/7/1999<br>terry : 7/7/1998<br>mark : 1/30/1998<br>mark : 1/30/1998<br>terry : 1/21/1998<br>mark : 7/22/1996<br>terry : 5/13/1996<br>mark : 4/30/1996<br>mark : 4/30/1996
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</span>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601240
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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GUANIDINOACETATE METHYLTRANSFERASE; GAMT
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GAMT</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124239003;
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 19p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:1,397,026-1,401,542 </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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<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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Location
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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19p13.3
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</td>
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<td>
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<span class="mim-font">
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Cerebral creatine deficiency syndrome 2
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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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612736
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Amidinotransferase converts glycine to guanidinoacetate; guanidinoacetate methyltransferase (GAMT) converts the latter to creatine with S-adenosylmethionine as the methyl donor.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Isbrandt and von Figura (1995) isolated the cDNA of human GAMT from a liver cDNA library with the aid of a partial cDNA of rat GAMT. It contained an open reading frame of 711 nucleotides. Stockler et al. (1996) used this cDNA as a probe for Northern blot analysis of RNA from liver, leukocytes, and fibroblasts of controls. They detected a single GAMT-RNA species of 1.1 kb in all 3 tissues. In leukocytes and fibroblasts, the frequencies of GAMT-RNA were 5- and 17-fold lower, respectively, than in liver. </p>
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</span>
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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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybridization and radiation hybrid analysis, Chae et al. (1998) mapped the GAMT gene to chromosome 19p13.3. By interspecific backcross analysis, they mapped the mouse Gamt gene to chromosome 10. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stockler et al. (1996) studied 2 patients with cerebral creatine deficiency syndrome-2 (CCDS2; 612736) resulting from GAMT deficiency. Patient 1 had inherited from his father a GAMT allele with a 327G-A mutation (601240.0001) and from his mother an allele with insertion of 13 bp after nucleotide 309 (601240.0002). Patient 2 was homozygous for the 327G-A mutation. The parents of both patients were heterozygous for the 327G-A mutation. (The numbering of nucleotides followed the sequence reported by Isbrandt and von Figura (1995).) The 327G-A mutation occupied position -1 of the 5-prime splice site of what was thought to be intron 2. The G in this position is known to be critical for the stability of basepairing between the splice site and the complementary region of U1snRNA and is a frequent target of mutations of 5-prime splice sites. The mutation resulted in the formation of 2 transcripts in each of the 2 patients. The 13-bp insertion within exon 2 in patient 1 is a direct repeat, which suggested to Stockler et al. (1996) that it may have arisen from slipped mispairing during replication. This allele likewise produced 2 alternative transcripts. Patients 1 and 2 were of German and Turkish extraction, respectively. </p><p>In 3 family members and an isolated patient with GAMT deficiency, Caldeira Araujo et al. (2005) identified mutations in the GAMT gene (601240.0003-601240.0004, respectively). </p><p>In 2 infants with GAMT deficiency, Hart et al. (2021) identified homozygous or compound heterozygous mutations in the GAMT gene (601240.0006-601240.0008). Both infants were initially identified by newborn screening which showed elevated guanidinoacetate level on a bloodspot. </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>Schmidt et al. (2004) generated a knockout mouse model for GAMT deficiency by gene targeting in embryonic stem cells. Gamt -/- mice had markedly increased guanidinoacetate (GAA) and reduced creatine and creatinine levels in brain, serum, and urine, similar to human GAMT patients. In vivo 31P magnetic resonance spectroscopy showed high levels of PGAA and reduced levels of creatine phosphate in heart, skeletal muscle, and brain. GAMT deficiency was associated with increased neonatal mortality, muscular hypotonia, decreased male fertility, and a non-leptin-mediated lifelong reduction in body weight due to reduced body fat mass. </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>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>The report by Ide et al. (2009) that GAMT is critical for the adaptive response to nutrient stress was retracted by the authors. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
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<strong>8 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 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, IVS2DS, G-A, -1
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<br />
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SNP: rs80338735,
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gnomAD: rs80338735,
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ClinVar: RCV000020141, RCV000187564, RCV000655367, RCV002513136
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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 child of German extraction with a severe neurologic syndrome due to cerebral creatine deficiency syndrome-2 (CCDS2; 612736), Stockler et al. (1996) demonstrated compound heterozygosity for a G-to-A transition in the last nucleotide of exon 2 (nucleotide 327) and a direct 13-bp duplication in exon 2 of the GAMT gene (601240.0002). A second child of Turkish extraction was homozygous for the 327G-A mutation. The mutations resulted in the generation of alternative transcripts for the gene. </p><p>Schulze et al. (1997) found this mutation in homozygosity in a female infant with GAMT deficiency born of Kurdish first-cousin parents. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, 13-BP DUP, NT309
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<br />
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SNP: rs80338736,
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ClinVar: RCV000008800, RCV000534459, RCV001787373, RCV002433449
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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>For discussion of the 13-bp duplication in exon 2 of the GAMT gene (309dup13) that was found in compound heterozygous state in a patient with a severe neurologic syndrome due to cerebral creatine deficiency syndrome-2 (CCDS2; 612736) by Stockler et al. (1996), see 601240.0001. </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 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, TRP20SER
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<br />
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SNP: rs80338734,
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gnomAD: rs80338734,
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ClinVar: RCV000008801, RCV000799554, RCV000986201, RCV002251891, RCV002354153
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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 and their male third cousin from a relatively small community in Portugal with cerebral creatine deficiency syndrome-2 (CCDS2; 612736), Caldeira Araujo et al. (2005) identified a homozygous 59G-C transversion in exon 1 of the GAMT gene, resulting in a trp20-to-ser (W20S) substitution. </p><p>Almeida et al. (2007) noted that of the 10 reported Portuguese patients with CCDS2, the W20S mutation was found in homozygosity in 8 and in compound heterozygosity in 1. They found that the variant had an overall carrier rate in Portugal of 0.8%, suggesting a founder effect. </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 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, CYS169TYR
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<br />
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SNP: rs121909272,
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gnomAD: rs121909272,
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ClinVar: RCV000008802, RCV001762039, RCV004700204
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an isolated case of cerebral creatine deficiency syndrome-2 (CCDS2; 612736) from a relatively small community in Portugal, Caldeira Araujo et al. (2005) identified a homozygous 506G-A transition in exon 5 of the GAMT gene, resulting in a cys169-to-tyr (C169Y) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, MET50LEU
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<br />
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SNP: rs104894694,
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ClinVar: RCV000008803, RCV001851745
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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 North African patient with cerebral creatine deficiency syndrome-2 and severe mental retardation (CCDS2; 612736), born of consanguineous parents, Lion-Francois et al. (2006) identified a 148A-C transversion in the GAMT gene, resulting in a met50-to-leu (M50L) substitution. The patient had delayed onset of walking, seizures, and autistic features. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</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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GAMT, 1-BP DUP, 609G
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<br />
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SNP: rs745740974,
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gnomAD: rs745740974,
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ClinVar: RCV001761398, RCV002260948
|
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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 infant with cerebral creatine deficiency syndrome-2 (CCDS2; 612736), Hart et al. (2021) identified homozygosity for a 1-bp duplication (c.609dupG) in the GAMT gene, predicted to result in a frameshift and extension of the protein beyond the canonical stop site (Arg204GlufsTer63). The mutation was identified by sequencing of the GAMT gene. The patient was initially identified by abnormal newborn screening showing an elevated guanidinoacetate level on a bloodspot. A 6-year-old sib of this patient was noted to have developmental delay, no speech, and hypotonia of unknown etiology; molecular analysis confirmed that the sib was homozygous for the c.609dupG mutation. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GAMT, TRP174TER
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<br />
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SNP: rs370421531,
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gnomAD: rs370421531,
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ClinVar: RCV000187569, RCV000316896, RCV000539751, RCV003907657
|
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|
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</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with cerebral creatine deficiency syndrome-2 (CCDS2; 612736), Hart et al. (2021) identified compound heterozygosity for 2 mutations in the GAMT gene, a c.522G-A transition, resulting in a trp174-to-ter (W174X) substitution, and a c.327G-A transition, predicted to cause a splicing abnormality. The mutations were identified by sequencing of the GAMT gene, and the parents were shown to be carriers. The c.327G-A transition, which affected a consensus splice site, was predicted to cause an insertion of 44 nucleotides or deletion of 146 nucleotides, both resulting in a frameshift and premature termination. The patient was initially identified by abnormal newborn screening showing an elevated guanidinoacetate level on a bloodspot. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CEREBRAL CREATINE DEFICIENCY SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAMT, c.327G-A
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000020141, RCV000187564, RCV000655367, RCV002513136
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.327G-A transition in the GAMT gene, predicted to cause a splicing abnormality, that was found in compound heterozygous state in an infant with cerebral creatine deficiency syndrome-2 (CCDS2; 612736) by Hart et al. (2021), see 601240.0007. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
|
|
<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Almeida, L. S., Vilarinho, L., Darmin, P. S., Rosenberg, E. H., Martinez-Munoz, C., Jakobs, C., Salomons, G. S.
|
|
<strong>A prevalent pathogenic GAMT mutation (c.59G-C) in Portugal.</strong>
|
|
Molec. Genet. Metab. 91: 1-6, 2007.
|
|
|
|
|
|
[PubMed: 17336114]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2007.01.005]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M.
|
|
<strong>Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.</strong>
|
|
Am. J. Med. Genet. 133A: 122-127, 2005.
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|
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|
|
[PubMed: 15651030]
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[Full Text: https://doi.org/10.1002/ajmg.a.30226]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chae, Y.-J., Chung, C.-E., Kim, B.-J., Lee, M.-H., Lee, H.
|
|
<strong>The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.</strong>
|
|
Genomics 49: 162-164, 1998.
|
|
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|
|
[PubMed: 9570966]
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[Full Text: https://doi.org/10.1006/geno.1998.5236]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hart, K., Rohrwasser, A., Wallis, H., Golsan, H., Shao, J., Anderson, 0 T., Wang, X., Szabo-Fresnais, N., Morrissey, M., Kay, D. M., Wojcik, M., Galvin-Parton, P. A., Longo, N., Caggana, M., Pasquali, M.
|
|
<strong>Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.</strong>
|
|
Molec. Genet. Metab. 134: 60-64, 2021.
|
|
|
|
|
|
[PubMed: 34389248]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2021.07.012]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Ide, T., Brown-Endres, L., Chu, K., Ongusaha, P. P., Ohtsuka, T., El-Deiry, W. S., Aaronson, S. A., Lee, S. W.
|
|
<strong>GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.</strong>
|
|
Molec. Cell 36: 379-392, 2009. Note: Retraction: Molec. Cell 51: 552 only, 2013.
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|
|
[PubMed: 19917247]
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[Full Text: https://doi.org/10.1016/j.molcel.2009.09.031]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Isbrandt, D., von Figura, K.
|
|
<strong>Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.</strong>
|
|
Biochim. Biophys. Acta 1264: 265-267, 1995.
|
|
|
|
|
|
[PubMed: 8547310]
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|
|
[Full Text: https://doi.org/10.1016/0167-4781(95)00184-0]
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|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lion-Francois, L., Cheillan, D., Pitelet, G., Acquaviva-Bourdain, C., Bussy, G., Cotton, F., Guibaud, L., Gerard, D., Rivier, C., Vianey-Saban, C., Jakobs, C., Salomons, G. S., des Portes, V.
|
|
<strong>High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.</strong>
|
|
Neurology 67: 1713-1714, 2006.
|
|
|
|
|
|
[PubMed: 17101918]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000239153.39710.81]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schmidt, A., Marescau, B., Boehm, E. A., Renema, W. K. J., Peco, R., Das, A., Steinfeld, R., Chan, S., Wallis, J., Davidoff, M., Ullrich, K., Waldschutz, R., Heerschap, A., De Deyn, P. P., Neubauer, S., Isbrandt, D.
|
|
<strong>Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.</strong>
|
|
Hum. Molec. Genet. 13: 905-921, 2004.
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|
|
[PubMed: 15028668]
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[Full Text: https://doi.org/10.1093/hmg/ddh112]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schulze, A., Hess, T., Wevers, R., Mayatepek, E., Bachert, P., Marescau, B., Knopp, M. V., De Deyn, P. P., Bremer, H. J., Rating, D.
|
|
<strong>Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.</strong>
|
|
J. Pediat. 131: 626-631, 1997.
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|
|
[PubMed: 9386672]
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|
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[Full Text: https://doi.org/10.1016/s0022-3476(97)70075-1]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Stockler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K.
|
|
<strong>Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.</strong>
|
|
Am. J. Hum. Genet. 58: 914-922, 1996.
|
|
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|
|
[PubMed: 8651275]
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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">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 06/23/2022<br>Hilary J. Vernon - updated : 04/17/2020<br>Patricia A. Hartz - updated : 9/28/2010<br>Cassandra L. Kniffin - updated : 2/7/2008<br>George E. Tiller - updated : 9/18/2006<br>Victor A. McKusick - updated : 3/23/2005<br>Ada Hamosh - updated : 2/6/2001<br>Carol A. Bocchini - updated : 3/7/1999<br>Victor A. McKusick - updated : 1/21/1998<br>Moyra Smith - updated : 12/18/1997
|
|
</span>
|
|
</div>
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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 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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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 4/30/1996
|
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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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<br />
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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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Edit History:
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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 : 06/23/2022<br>carol : 04/17/2020<br>carol : 02/11/2015<br>mcolton : 2/10/2015<br>carol : 3/21/2014<br>carol : 7/17/2013<br>ckniffin : 7/16/2013<br>mgross : 9/28/2010<br>terry : 9/28/2010<br>terry : 4/20/2009<br>terry : 4/20/2009<br>carol : 4/20/2009<br>wwang : 2/20/2008<br>ckniffin : 2/7/2008<br>alopez : 9/18/2006<br>tkritzer : 3/23/2005<br>terry : 3/23/2005<br>carol : 3/17/2004<br>mcapotos : 2/9/2001<br>terry : 2/6/2001<br>terry : 3/9/1999<br>carol : 3/7/1999<br>terry : 7/7/1998<br>mark : 1/30/1998<br>mark : 1/30/1998<br>terry : 1/21/1998<br>mark : 7/22/1996<br>terry : 5/13/1996<br>mark : 4/30/1996<br>mark : 4/30/1996
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