3565 lines
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3565 lines
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Entry
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- *172471 - PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
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- OMIM
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<p>
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<span class="h4">*172471</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/172471">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="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 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 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=ENSG00000156873;t=ENST00000563588" 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=5261" 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=172471" 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="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div 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=ENSG00000156873;t=ENST00000563588" 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_000294,NM_001172432" 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_000294" 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=172471" 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 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=01405&isoform_id=01405_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/PHKG2" 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/125536,189941,190658,2832753,4261819,4505785,12803435,62087690,119572593,119572594,119572595,119572596,158260007,194374265,289063422" 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/P15735" 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=5261" 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=ENSG00000156873;t=ENST00000563588" 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=PHKG2" 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=PHKG2" 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+5261" 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/PHKG2" 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:5261" 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/5261" 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=chr16&hgg_gene=ENST00000563588.6&hgg_start=30748425&hgg_end=30761176&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:8931" 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:8931" 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/phkg2" 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=172471[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=172471[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://gnomad.broadinstitute.org/gene/ENSG00000156873" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PHKG2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PHKG2" 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=PHKG2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PHKG2&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/PA33272" 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:8931" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0011754.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1916211" 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/PHKG2#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:1916211" 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/5261/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=5261" 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://wormbase.org/db/gene/gene?name=WBGene00021753;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-825" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5261" 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=PHKG2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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172471
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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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PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
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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=PHKG2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PHKG2</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/16/364?start=-3&limit=10&highlight=364">16p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:30748425-30761176&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'})">16:30,748,425-30,761,176</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/364?start=-3&limit=10&highlight=364">
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16p11.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Glycogen storage disease IXc
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613027"> 613027 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal 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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/172471" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/172471" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<p>The PHKG2 gene encodes the hepatic and testis isoform of the gamma subunit of phosphorylase kinase (PHK; <a href="https://enzyme.expasy.org/EC/2.7.11.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.11.19</a>). The skeletal muscle isoform of the gamma subunit is encoded by the PHKG1 gene (<a href="/entry/172470">172470</a>).</p>
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<p><a href="#13" class="mim-tip-reference" title="Whitmore, S. A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., Sutherland, G. R., Callen, D. F. <strong>Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.</strong> Genomics 20: 169-175, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020963</a>] [<a href="https://doi.org/10.1006/geno.1994.1150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020963">Whitmore et al. (1994)</a> isolated a clone identified as the PHKG2 gene from a heteronuclear cDNA library constructed from a mouse/human somatic cell hybrid that contained chromosome 16. Most of the sequence showed 100% homology with the sequence of an isoform of a catalytic subunit of phosphorylase kinase (<a href="#5" class="mim-tip-reference" title="Hanks, S. K. <strong>Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis.</strong> Molec. Endocr. 3: 110-116, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2915644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2915644</a>] [<a href="https://doi.org/10.1210/mend-3-1-110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2915644">Hanks, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8020963+2915644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. <strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong> Hum. Molec. Genet. 7: 149-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384616</a>] [<a href="https://doi.org/10.1093/hmg/7.1.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384616">Burwinkel et al. (1998)</a> determined that the PHKG2 gene contains 10 exons and spans 9.5 kb. The positions of introns were highly conserved between PHKG2 and PHKG1. The beginning of intron 2 harbors a highly polymorphic GGT/GT microsatellite repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384616" 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="#13" class="mim-tip-reference" title="Whitmore, S. A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., Sutherland, G. R., Callen, D. F. <strong>Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.</strong> Genomics 20: 169-175, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020963</a>] [<a href="https://doi.org/10.1006/geno.1994.1150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020963">Whitmore et al. (1994)</a> mapped the PHKG2 gene to chromosome 16p12.1-p11.2 by use of a high-resolution somatic cell panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020963" 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><strong><em>Glycogen Storage Disease IXc</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. <strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong> Nature Genet. 14: 337-340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>] [<a href="https://doi.org/10.1038/ng1196-337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896567">Maichele et al. (1996)</a> reported that autosomal liver-specific PHK deficiency (glycogen storage disease IXc; GSD9C; <a href="/entry/613027">613027</a>) was caused by mutations in the PHKG2 gene. They found homozygous PHKG2 mutations in 3 patients of consanguineous parentage. One mutation was a single basepair insertion in codon 89 that caused a frameshift and premature chain termination (<a href="#0001">172471.0001</a>). The 3 other mutations resulted in nonconservative replacements of amino acid residues that are highly conserved within the catalytic core regions of all protein kinases. The findings suggested that the PHKG2 gene product is the predominant isoform of catalytic gamma subunit of PHK not only in testis but also in liver, erythrocytes, and possibly other nonmuscle tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896567" 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="Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. <strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong> Hum. Molec. Genet. 7: 149-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384616</a>] [<a href="https://doi.org/10.1093/hmg/7.1.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384616">Burwinkel et al. (1998)</a> identified homozygous translation-terminating mutations in the PHKG2 gene, R442X (<a href="#0004">172471.0004</a>) and 277delC (<a href="#0005">172471.0005</a>), in 2 patients with liver phosphorylase kinase deficiency who developed cirrhosis in childhood. As liver phosphorylase kinase deficiency is generally a benign condition and progression to cirrhosis is very rare, the findings suggested to the authors that PHKG2 mutations are particularly associated with an increased cirrhosis risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Burwinkel, B., Tanner, M. S., Kilimann, M. W. <strong>Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter)</strong> J. Med. Genet. 37: 376-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905889</a>] [<a href="https://doi.org/10.1136/jmg.37.5.376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10905889">Burwinkel et al. (2000)</a> reported compound heterozygosity for missense mutations in the PHKG2 gene (<a href="#0006">172471.0006</a>; <a href="#0007">172471.0007</a>) in a child with phosphorylase kinase deficiency and cirrhosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S. <strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong> Molec. Genet. Metab. 113: 171-176, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25266922">Roscher et al. (2014)</a> reported 3 novel mutations in the PHKG2 gene resulting in GSD IXc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the PHKG2 gene and Mauriac syndrome complicating type 1 diabetes, see <a href="#0008">172471.0008</a>.</p>
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<p><a href="#9" class="mim-tip-reference" title="Malthus, R., Clark, D. G., Watts, C., Sneyd, J. G. T. <strong>Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase.</strong> Biochem. J. 188: 99-106, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931596</a>] [<a href="https://doi.org/10.1042/bj1880099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6931596">Malthus et al. (1980)</a> described deficiency of liver phosphorylase kinase in rats and concluded that it was an autosomal recessive trait. Apart from hepatomegaly, the affected rats appear healthy. <a href="#3" class="mim-tip-reference" title="Clark, D., Haynes, D. <strong>The glycogen storage disease (gsd/gsd) rat.</strong> Curr. Top. Cell. Regul. 29: 217-263, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3293925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3293925</a>] [<a href="https://doi.org/10.1016/b978-0-12-152829-4.50007-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3293925">Clark and Haynes (1988)</a> described autosomal recessive glycogen storage disease in the rat (gsd/gsd). <a href="#8" class="mim-tip-reference" title="Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. <strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong> Nature Genet. 14: 337-340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>] [<a href="https://doi.org/10.1038/ng1196-337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896567">Maichele et al. (1996)</a> identified a homozygous mutation in the rat Phkg2 gene (D215N) as responsible for the gsd phenotype in the rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6931596+8896567+3293925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gibson, R. A., Lim, J.-A., Choi, S. J., Flores, L., Clinton, L., Bali, D., Young, S., Asokan, A., Sun, B., Kishnani, P. S. <strong>Characterization of liver GSD IX gamma-2 pathophysiology in a novel Phkg2 -/- mouse model.</strong> Molec. Genet. Metab. 133: 269-276, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34083142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34083142</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.05.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34083142">Gibson et al. (2021)</a> generated a Phkg2 knockout mouse model. Compared to wildtype mice, Phkg2 -/- mice had reduced body weight at 1 month of age, but similar weight at 2 or 3 months of age, and had significantly higher liver to body ratio. Liver tissue from the knockout mice had significantly elevated glycogen content, and liver histology demonstrated heterogeneously enlarged hepatocytes and evidence of early perisinusoidal liver fibrosis. Urine from knockout mice had elevated Hex-4, a biomarker of glycogen accumulation, and serum from knockout mice had elevated AST and ALT. <a href="#4" class="mim-tip-reference" title="Gibson, R. A., Lim, J.-A., Choi, S. J., Flores, L., Clinton, L., Bali, D., Young, S., Asokan, A., Sun, B., Kishnani, P. S. <strong>Characterization of liver GSD IX gamma-2 pathophysiology in a novel Phkg2 -/- mouse model.</strong> Molec. Genet. Metab. 133: 269-276, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34083142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34083142</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.05.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34083142">Gibson et al. (2021)</a> concluded that the Phkg2 -/- mice recapitulated the liver-specific glycogen accumulation phenotype of patients with glycogen storage disease IXc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34083142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Norwegian girl with autosomal recessive glycogen storage disease IXc (GSD9C; <a href="/entry/613027">613027</a>) <a href="#12" class="mim-tip-reference" title="Sovik, O., deBarsy, T., Maehle, B. <strong>Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (Letter)</strong> Europ. J. Pediat. 139: 210 only, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6962066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6962066</a>] [<a href="https://doi.org/10.1007/BF01377363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6962066">Sovik et al. (1982)</a>, <a href="#8" class="mim-tip-reference" title="Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. <strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong> Nature Genet. 14: 337-340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>] [<a href="https://doi.org/10.1038/ng1196-337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896567">Maichele et al. (1996)</a> identified homozygosity for a 1-bp insertion in codon 89 of the PHKG2 gene; the resultant frameshift (after 22% of the normal length of the reading frame) led to premature termination of the predicted polypeptide after 12 additional amino acids. The parents, who were fourth cousins, and a sister were unaffected. She proband presented at 5 months of age, and again at 3 years, with marked hepatomegaly, generalized muscular hypotonia, growth retardation, elevated serum transaminases, and massive liver glycogenosis. PHK activity was barely detectable in liver; in a muscle biopsy, PHK activity was moderately reduced (35% of controls) but muscle glycogen content was nevertheless low. No liver fibrosis was observed. She attained a normal height of 172 cm at age 18, and menarche was at age 17. The relative size of the liver gradually decreased, and at age 18 serum activities of gamma-glutamyltransferase and alanine aminotransferase were approaching normal ranges. Serum cholesterol was normal, hypoglycemic symptoms were not noted, and body weight was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8896567+6962066" 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">rs137853588 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853588;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=rs137853588" 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=rs137853588" 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=RCV000014596" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014596" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014596</a>
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<p>In a French girl with glycogen storage disease IXc (GSD9C; <a href="/entry/613027">613027</a>), whose parents were first cousins, <a href="#8" class="mim-tip-reference" title="Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. <strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong> Nature Genet. 14: 337-340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>] [<a href="https://doi.org/10.1038/ng1196-337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896567">Maichele et al. (1996)</a> identified homozygosity for a G-to-A transition in the PHKG2 gene that led to a gly189-to-glu (G189E) substitution. G189 is absolutely conserved between the testicular and muscle forms of the gamma subunit of several species and is never occupied by charged amino acids. The patient had been hospitalized at 7 months of age because of hypoglycemic episodes and pronounced hepatomegaly. Mild muscle hypotonia and retardation of growth and motor development were also observed. Notable laboratory findings were persistent hypoglycemia with acidosis, and elevated triglycerides and transaminases. Liver histology revealed fine portal fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896567" 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 GLYCOGEN STORAGE DISEASE IXc</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">rs137853589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853589;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=rs137853589" 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=rs137853589" 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=RCV000014597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014597</a>
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<p>In a Pakistani girl with glycogen storage disease IXc (GSD9C; <a href="/entry/613027">613027</a>), whose parents were first cousins, <a href="#8" class="mim-tip-reference" title="Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. <strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong> Nature Genet. 14: 337-340, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>] [<a href="https://doi.org/10.1038/ng1196-337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896567">Maichele et al. (1996)</a> demonstrated homozygosity for a val106-to-glu (V106E) missense mutation in the PHKG2 gene. The girl was admitted at the age of 15 months for investigation of a distended abdomen due to hepatomegaly with no other clinical symptoms except growth retardation. However, she had increased serum ALT and triglycerides, increased liver glycogen, and severe fibrosis and proliferation of bile ducts on liver biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896567" 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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PHKG2, ARG44TER
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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> rs137853590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853590;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/rs137853590?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=rs137853590" 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=rs137853590" 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=RCV000014598 OR RCV000593411" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014598, RCV000593411" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014598...</a>
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<p>In a female with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; <a href="/entry/612027">612027</a>), whose parents were consanguineous, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. <strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong> Hum. Molec. Genet. 7: 149-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384616</a>] [<a href="https://doi.org/10.1093/hmg/7.1.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384616">Burwinkel et al. (1998)</a> found point mutations in the PHKG2 gene. One patient had a C-to-T transition in exon 3, resulting in an arg44-to-ter (R44X) nonsense mutation. In an earlier biochemical analysis of her family (<a href="#6" class="mim-tip-reference" title="Kagalwalla, A. F., Kagalwalla, Y. A., al Ajaji, S., Gorka, W., Ali, M. A. <strong>Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.</strong> J. Pediat. 127: 602-605, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562285</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70123-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7562285">Kagalwalla et al., 1995</a>), her father and 2 sibs had PHK activities in the heterozygous range, whereas her mother had normal PHK activity in repeated tests, so that a new maternal mutation was suspected in spite of her parents' consanguinity. However, analysis of the parents' DNA indicated that both were heterozygous for the nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7562285+9384616" 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 GLYCOGEN STORAGE DISEASE IXc</strong>
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PHKG2, 1-BP DEL, 277C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1596680941 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1596680941;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=rs1596680941" 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=rs1596680941" 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=RCV000014599" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014599" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014599</a>
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<p>In a female with deficiency of liver phosphorylase kinase and cirrhosis (GSD9C; <a href="/entry/613027">613027</a>) who had previously been described by <a href="#11" class="mim-tip-reference" title="Shiomi, S., Saeki, Y., Kim. K., Nishiguchi, S., Seki, S., Kuroki, T., Kobayashi, K., Harihara, S., Owada, M. <strong>A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.</strong> Gastroent. Jpn. 24: 711-714, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2558039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2558039</a>] [<a href="https://doi.org/10.1007/BF02774172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2558039">Shiomi et al. (1989)</a>, <a href="#1" class="mim-tip-reference" title="Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. <strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong> Hum. Molec. Genet. 7: 149-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384616</a>] [<a href="https://doi.org/10.1093/hmg/7.1.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384616">Burwinkel et al. (1998)</a> identified deletion of a cytosine residue in codon 93 (exon 4) of the PHKG2 gene, leading to a frameshift after 23% of the coding sequence and termination of translation after 17 additional codons. The patient's parents were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2558039+9384616" 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 GLYCOGEN STORAGE DISEASE IXc</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">rs137853591 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853591;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=rs137853591" 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=rs137853591" 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=RCV000014600" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014600" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014600</a>
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<p>In a male child of unrelated English parents with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; <a href="/entry/613027">613027</a>), <a href="#2" class="mim-tip-reference" title="Burwinkel, B., Tanner, M. S., Kilimann, M. W. <strong>Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter)</strong> J. Med. Genet. 37: 376-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905889</a>] [<a href="https://doi.org/10.1136/jmg.37.5.376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10905889">Burwinkel et al. (2000)</a> identified compound heterozygosity for 2 mutations in the PHKG2 gene: a C-to-T transition resulting in a his144-to-tyr (H144Y) substitution, which was inherited from his father, and a T-to-G transversion resulting in a leu225-to-arg (L225R) substitution (<a href="#0007">172471.0007</a>), which was inherited from his mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905889" 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 GLYCOGEN STORAGE DISEASE IXc</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">rs137853592 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853592;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=rs137853592" 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=rs137853592" 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=RCV000014601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014601</a>
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<p>For discussion of the leu225-to-arg (L225R) mutation in the PHKG2 gene that was found in compound heterozygous state in a child with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; <a href="/entry/613027">613027</a>) by <a href="#2" class="mim-tip-reference" title="Burwinkel, B., Tanner, M. S., Kilimann, M. W. <strong>Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter)</strong> J. Med. Genet. 37: 376-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905889</a>] [<a href="https://doi.org/10.1136/jmg.37.5.376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10905889">Burwinkel et al. (2000)</a>, see <a href="#0006">172471.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905889" 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 VARIANT OF UNKNOWN SIGNIFICANCE</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> rs572115942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs572115942;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/rs572115942?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=rs572115942" 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=rs572115942" 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=RCV000239479 OR RCV000255740 OR RCV002519869 OR RCV004767196" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239479, RCV000255740, RCV002519869, RCV004767196" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239479...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to Mauriac syndrome complicating diabetes type 1 has not been confirmed.</p><p>Mauriac syndrome is a severe complication of type 1 diabetes that manifests as massive liver enlargement due to glycogen storage, growth failure, and delayed puberty. In an 18-year-old man with poorly controlled type 1 diabetes, who presented at age 13 years with Mauriac syndrome, <a href="#7" class="mim-tip-reference" title="MacDonald, M. J., Hasan, N. M., Ansari, I. H., Longacre, M. J., Kendrick, M. A., Stoker, S. W. <strong>Discovery of a genetic metabolic cause for Mauriac syndrome in type 1 diabetes.</strong> Diabetes 65: 2051-2059, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27207549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27207549</a>] [<a href="https://doi.org/10.2337/db16-0099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27207549">MacDonald et al. (2016)</a> identified heterozygosity for a G-A transition in exon 9 of the PHKG2 gene, resulting in an arg309-to-gln (R309Q) substitution at a conserved residue within domain N. The mutation was inherited from his unaffected mother, who did not have diabetes; his father, who died at 45 years of age from complications of poorly controlled type 1 diabetes but who had never exhibited an enlarged liver or growth failure, did not carry the mutation. The mutation was not found in 231 children with type 1 diabetes without hepatomegaly. Functional analysis in human liver cells demonstrated that the 50% presence of the R309Q mutant causes complete inhibition of PHK enzyme activity, consistent with a dominant-negative mechanism; the mutant cell line contained 33 to 70% higher glycogen levels than wildtype cells. <a href="#7" class="mim-tip-reference" title="MacDonald, M. J., Hasan, N. M., Ansari, I. H., Longacre, M. J., Kendrick, M. A., Stoker, S. W. <strong>Discovery of a genetic metabolic cause for Mauriac syndrome in type 1 diabetes.</strong> Diabetes 65: 2051-2059, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27207549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27207549</a>] [<a href="https://doi.org/10.2337/db16-0099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27207549">MacDonald et al. (2016)</a> concluded that the phenotype can be caused in patients with type 1 diabetes by mutation in the PHKG2 gene and possibly other glycogen metabolism enzyme genes, and suggested screening of additional patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27207549" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Burwinkel1998" class="mim-anchor"></a>
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Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
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<strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong>
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Hum. Molec. Genet. 7: 149-154, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384616" 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/7.1.149" target="_blank">Full Text</a>]
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Burwinkel, B., Tanner, M. S., Kilimann, M. W.
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<strong>Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter)</strong>
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J. Med. Genet. 37: 376-377, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.5.376" target="_blank">Full Text</a>]
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<a id="Clark1988" class="mim-anchor"></a>
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Clark, D., Haynes, D.
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<strong>The glycogen storage disease (gsd/gsd) rat.</strong>
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Curr. Top. Cell. Regul. 29: 217-263, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3293925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3293925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3293925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gibson, R. A., Lim, J.-A., Choi, S. J., Flores, L., Clinton, L., Bali, D., Young, S., Asokan, A., Sun, B., Kishnani, P. S.
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<strong>Characterization of liver GSD IX gamma-2 pathophysiology in a novel Phkg2 -/- mouse model.</strong>
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Molec. Genet. Metab. 133: 269-276, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34083142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34083142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34083142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hanks, S. K.
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<strong>Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis.</strong>
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Molec. Endocr. 3: 110-116, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2915644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2915644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2915644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kagalwalla, A. F., Kagalwalla, Y. A., al Ajaji, S., Gorka, W., Ali, M. A.
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<strong>Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.</strong>
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J. Pediat. 127: 602-605, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7562285" 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(95)70123-0" target="_blank">Full Text</a>]
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MacDonald, M. J., Hasan, N. M., Ansari, I. H., Longacre, M. J., Kendrick, M. A., Stoker, S. W.
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<strong>Discovery of a genetic metabolic cause for Mauriac syndrome in type 1 diabetes.</strong>
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Diabetes 65: 2051-2059, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27207549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27207549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27207549" 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/10.2337/db16-0099" target="_blank">Full Text</a>]
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Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W.
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<strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong>
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Nature Genet. 14: 337-340, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1196-337" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Malthus1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malthus, R., Clark, D. G., Watts, C., Sneyd, J. G. T.
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<strong>Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase.</strong>
|
|
Biochem. J. 188: 99-106, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6931596" 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/10.1042/bj1880099" 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="Roscher2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
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<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
|
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Molec. Genet. Metab. 113: 171-176, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" 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.2014.09.005" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Shiomi1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shiomi, S., Saeki, Y., Kim. K., Nishiguchi, S., Seki, S., Kuroki, T., Kobayashi, K., Harihara, S., Owada, M.
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<strong>A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.</strong>
|
|
Gastroent. Jpn. 24: 711-714, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2558039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2558039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2558039" 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/10.1007/BF02774172" 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="12" class="mim-anchor"></a>
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<a id="Sovik1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sovik, O., deBarsy, T., Maehle, B.
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<strong>Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (Letter)</strong>
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Europ. J. Pediat. 139: 210 only, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6962066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6962066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6962066" 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/10.1007/BF01377363" 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="13" class="mim-anchor"></a>
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<a id="Whitmore1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitmore, S. A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., Sutherland, G. R., Callen, D. F.
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<strong>Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.</strong>
|
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Genomics 20: 169-175, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020963" 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.1994.1150" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</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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Hilary J. Vernon - updated : 07/15/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/17/2016<br>Ada Hamosh - updated : 5/27/2015<br>Cassandra L. Kniffin - updated : 9/24/2009<br>Michael J. Wright - updated : 7/20/2001<br>Victor A. McKusick - updated : 3/26/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/4/1994
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/15/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 10/28/2016<br>carol : 08/17/2016<br>carol : 06/23/2016<br>mcolton : 8/19/2015<br>alopez : 5/27/2015<br>mcolton : 5/1/2014<br>ckniffin : 10/6/2009<br>carol : 10/1/2009<br>ckniffin : 9/24/2009<br>terry : 3/3/2009<br>carol : 1/6/2009<br>carol : 4/17/2007<br>carol : 4/17/2007<br>mgross : 3/17/2004<br>alopez : 7/27/2001<br>terry : 7/20/2001<br>terry : 7/20/2001<br>dkim : 7/7/1998<br>alopez : 3/26/1998<br>terry : 3/20/1998<br>jamie : 11/6/1996<br>terry : 10/31/1996<br>terry : 10/29/1996<br>carol : 4/4/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 172471
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PHKG2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:30,748,425-30,761,176 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16p11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Glycogen storage disease IXc
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
613027
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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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PHKG2 gene encodes the hepatic and testis isoform of the gamma subunit of phosphorylase kinase (PHK; EC 2.7.11.19). The skeletal muscle isoform of the gamma subunit is encoded by the PHKG1 gene (172470).</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>Whitmore et al. (1994) isolated a clone identified as the PHKG2 gene from a heteronuclear cDNA library constructed from a mouse/human somatic cell hybrid that contained chromosome 16. Most of the sequence showed 100% homology with the sequence of an isoform of a catalytic subunit of phosphorylase kinase (Hanks, 1989). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Burwinkel et al. (1998) determined that the PHKG2 gene contains 10 exons and spans 9.5 kb. The positions of introns were highly conserved between PHKG2 and PHKG1. The beginning of intron 2 harbors a highly polymorphic GGT/GT microsatellite repeat. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>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>Whitmore et al. (1994) mapped the PHKG2 gene to chromosome 16p12.1-p11.2 by use of a high-resolution somatic cell panel. </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><strong><em>Glycogen Storage Disease IXc</em></strong></p><p>
|
|
Maichele et al. (1996) reported that autosomal liver-specific PHK deficiency (glycogen storage disease IXc; GSD9C; 613027) was caused by mutations in the PHKG2 gene. They found homozygous PHKG2 mutations in 3 patients of consanguineous parentage. One mutation was a single basepair insertion in codon 89 that caused a frameshift and premature chain termination (172471.0001). The 3 other mutations resulted in nonconservative replacements of amino acid residues that are highly conserved within the catalytic core regions of all protein kinases. The findings suggested that the PHKG2 gene product is the predominant isoform of catalytic gamma subunit of PHK not only in testis but also in liver, erythrocytes, and possibly other nonmuscle tissues. </p><p>Burwinkel et al. (1998) identified homozygous translation-terminating mutations in the PHKG2 gene, R442X (172471.0004) and 277delC (172471.0005), in 2 patients with liver phosphorylase kinase deficiency who developed cirrhosis in childhood. As liver phosphorylase kinase deficiency is generally a benign condition and progression to cirrhosis is very rare, the findings suggested to the authors that PHKG2 mutations are particularly associated with an increased cirrhosis risk. </p><p>Burwinkel et al. (2000) reported compound heterozygosity for missense mutations in the PHKG2 gene (172471.0006; 172471.0007) in a child with phosphorylase kinase deficiency and cirrhosis. </p><p>Roscher et al. (2014) reported 3 novel mutations in the PHKG2 gene resulting in GSD IXc. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between variation in the PHKG2 gene and Mauriac syndrome complicating type 1 diabetes, see 172471.0008.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Malthus et al. (1980) described deficiency of liver phosphorylase kinase in rats and concluded that it was an autosomal recessive trait. Apart from hepatomegaly, the affected rats appear healthy. Clark and Haynes (1988) described autosomal recessive glycogen storage disease in the rat (gsd/gsd). Maichele et al. (1996) identified a homozygous mutation in the rat Phkg2 gene (D215N) as responsible for the gsd phenotype in the rat. </p><p>Gibson et al. (2021) generated a Phkg2 knockout mouse model. Compared to wildtype mice, Phkg2 -/- mice had reduced body weight at 1 month of age, but similar weight at 2 or 3 months of age, and had significantly higher liver to body ratio. Liver tissue from the knockout mice had significantly elevated glycogen content, and liver histology demonstrated heterogeneously enlarged hepatocytes and evidence of early perisinusoidal liver fibrosis. Urine from knockout mice had elevated Hex-4, a biomarker of glycogen accumulation, and serum from knockout mice had elevated AST and ALT. Gibson et al. (2021) concluded that the Phkg2 -/- mice recapitulated the liver-specific glycogen accumulation phenotype of patients with glycogen storage disease IXc. </p>
|
|
</span>
|
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</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 GLYCOGEN STORAGE DISEASE IXc</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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PHKG2, 1-BP INS
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<br />
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ClinVar: RCV000014595
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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 Norwegian girl with autosomal recessive glycogen storage disease IXc (GSD9C; 613027) Sovik et al. (1982), Maichele et al. (1996) identified homozygosity for a 1-bp insertion in codon 89 of the PHKG2 gene; the resultant frameshift (after 22% of the normal length of the reading frame) led to premature termination of the predicted polypeptide after 12 additional amino acids. The parents, who were fourth cousins, and a sister were unaffected. She proband presented at 5 months of age, and again at 3 years, with marked hepatomegaly, generalized muscular hypotonia, growth retardation, elevated serum transaminases, and massive liver glycogenosis. PHK activity was barely detectable in liver; in a muscle biopsy, PHK activity was moderately reduced (35% of controls) but muscle glycogen content was nevertheless low. No liver fibrosis was observed. She attained a normal height of 172 cm at age 18, and menarche was at age 17. The relative size of the liver gradually decreased, and at age 18 serum activities of gamma-glutamyltransferase and alanine aminotransferase were approaching normal ranges. Serum cholesterol was normal, hypoglycemic symptoms were not noted, and body weight was normal. </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 GLYCOGEN STORAGE DISEASE IXc</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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PHKG2, GLY189GLU
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<br />
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SNP: rs137853588,
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ClinVar: RCV000014596
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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 French girl with glycogen storage disease IXc (GSD9C; 613027), whose parents were first cousins, Maichele et al. (1996) identified homozygosity for a G-to-A transition in the PHKG2 gene that led to a gly189-to-glu (G189E) substitution. G189 is absolutely conserved between the testicular and muscle forms of the gamma subunit of several species and is never occupied by charged amino acids. The patient had been hospitalized at 7 months of age because of hypoglycemic episodes and pronounced hepatomegaly. Mild muscle hypotonia and retardation of growth and motor development were also observed. Notable laboratory findings were persistent hypoglycemia with acidosis, and elevated triglycerides and transaminases. Liver histology revealed fine portal fibrosis. </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>.0003 GLYCOGEN STORAGE DISEASE IXc</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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PHKG2, VAL106GLU
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<br />
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SNP: rs137853589,
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ClinVar: RCV000014597
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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 Pakistani girl with glycogen storage disease IXc (GSD9C; 613027), whose parents were first cousins, Maichele et al. (1996) demonstrated homozygosity for a val106-to-glu (V106E) missense mutation in the PHKG2 gene. The girl was admitted at the age of 15 months for investigation of a distended abdomen due to hepatomegaly with no other clinical symptoms except growth retardation. However, she had increased serum ALT and triglycerides, increased liver glycogen, and severe fibrosis and proliferation of bile ducts on liver biopsy. </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>.0004 GLYCOGEN STORAGE DISEASE IXc</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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PHKG2, ARG44TER
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<br />
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SNP: rs137853590,
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gnomAD: rs137853590,
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ClinVar: RCV000014598, RCV000593411
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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 female with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; 612027), whose parents were consanguineous, Burwinkel et al. (1998) found point mutations in the PHKG2 gene. One patient had a C-to-T transition in exon 3, resulting in an arg44-to-ter (R44X) nonsense mutation. In an earlier biochemical analysis of her family (Kagalwalla et al., 1995), her father and 2 sibs had PHK activities in the heterozygous range, whereas her mother had normal PHK activity in repeated tests, so that a new maternal mutation was suspected in spite of her parents' consanguinity. However, analysis of the parents' DNA indicated that both were heterozygous for the nonsense mutation. </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 GLYCOGEN STORAGE DISEASE IXc</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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PHKG2, 1-BP DEL, 277C
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<br />
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SNP: rs1596680941,
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ClinVar: RCV000014599
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female with deficiency of liver phosphorylase kinase and cirrhosis (GSD9C; 613027) who had previously been described by Shiomi et al. (1989), Burwinkel et al. (1998) identified deletion of a cytosine residue in codon 93 (exon 4) of the PHKG2 gene, leading to a frameshift after 23% of the coding sequence and termination of translation after 17 additional codons. The patient's parents were consanguineous. </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>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE IXc</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PHKG2, HIS144TYR
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<br />
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SNP: rs137853591,
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ClinVar: RCV000014600
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male child of unrelated English parents with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; 613027), Burwinkel et al. (2000) identified compound heterozygosity for 2 mutations in the PHKG2 gene: a C-to-T transition resulting in a his144-to-tyr (H144Y) substitution, which was inherited from his father, and a T-to-G transversion resulting in a leu225-to-arg (L225R) substitution (172471.0007), which was inherited from his mother. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCOGEN STORAGE DISEASE IXc</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKG2, LEU225ARG
|
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|
|
<br />
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|
|
SNP: rs137853592,
|
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|
|
ClinVar: RCV000014601
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu225-to-arg (L225R) mutation in the PHKG2 gene that was found in compound heterozygous state in a child with liver phosphorylase kinase deficiency and cirrhosis (GSD9C; 613027) by Burwinkel et al. (2000), see 172471.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKG2, ARG309GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs572115942,
|
|
|
|
|
|
gnomAD: rs572115942,
|
|
|
|
|
|
ClinVar: RCV000239479, RCV000255740, RCV002519869, RCV004767196
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to Mauriac syndrome complicating diabetes type 1 has not been confirmed.</p><p>Mauriac syndrome is a severe complication of type 1 diabetes that manifests as massive liver enlargement due to glycogen storage, growth failure, and delayed puberty. In an 18-year-old man with poorly controlled type 1 diabetes, who presented at age 13 years with Mauriac syndrome, MacDonald et al. (2016) identified heterozygosity for a G-A transition in exon 9 of the PHKG2 gene, resulting in an arg309-to-gln (R309Q) substitution at a conserved residue within domain N. The mutation was inherited from his unaffected mother, who did not have diabetes; his father, who died at 45 years of age from complications of poorly controlled type 1 diabetes but who had never exhibited an enlarged liver or growth failure, did not carry the mutation. The mutation was not found in 231 children with type 1 diabetes without hepatomegaly. Functional analysis in human liver cells demonstrated that the 50% presence of the R309Q mutant causes complete inhibition of PHK enzyme activity, consistent with a dominant-negative mechanism; the mutant cell line contained 33 to 70% higher glycogen levels than wildtype cells. MacDonald et al. (2016) concluded that the phenotype can be caused in patients with type 1 diabetes by mutation in the PHKG2 gene and possibly other glycogen metabolism enzyme genes, and suggested screening of additional patients. </p>
|
|
</span>
|
|
</div>
|
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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>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
|
|
<strong>Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.</strong>
|
|
Hum. Molec. Genet. 7: 149-154, 1998.
|
|
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|
|
[PubMed: 9384616]
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[Full Text: https://doi.org/10.1093/hmg/7.1.149]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Tanner, M. S., Kilimann, M. W.
|
|
<strong>Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter)</strong>
|
|
J. Med. Genet. 37: 376-377, 2000.
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|
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[PubMed: 10905889]
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[Full Text: https://doi.org/10.1136/jmg.37.5.376]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Clark, D., Haynes, D.
|
|
<strong>The glycogen storage disease (gsd/gsd) rat.</strong>
|
|
Curr. Top. Cell. Regul. 29: 217-263, 1988.
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|
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|
|
[PubMed: 3293925]
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[Full Text: https://doi.org/10.1016/b978-0-12-152829-4.50007-0]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gibson, R. A., Lim, J.-A., Choi, S. J., Flores, L., Clinton, L., Bali, D., Young, S., Asokan, A., Sun, B., Kishnani, P. S.
|
|
<strong>Characterization of liver GSD IX gamma-2 pathophysiology in a novel Phkg2 -/- mouse model.</strong>
|
|
Molec. Genet. Metab. 133: 269-276, 2021.
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|
[PubMed: 34083142]
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.05.008]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hanks, S. K.
|
|
<strong>Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis.</strong>
|
|
Molec. Endocr. 3: 110-116, 1989.
|
|
|
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|
|
[PubMed: 2915644]
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|
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[Full Text: https://doi.org/10.1210/mend-3-1-110]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kagalwalla, A. F., Kagalwalla, Y. A., al Ajaji, S., Gorka, W., Ali, M. A.
|
|
<strong>Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.</strong>
|
|
J. Pediat. 127: 602-605, 1995.
|
|
|
|
|
|
[PubMed: 7562285]
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|
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|
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[Full Text: https://doi.org/10.1016/s0022-3476(95)70123-0]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
MacDonald, M. J., Hasan, N. M., Ansari, I. H., Longacre, M. J., Kendrick, M. A., Stoker, S. W.
|
|
<strong>Discovery of a genetic metabolic cause for Mauriac syndrome in type 1 diabetes.</strong>
|
|
Diabetes 65: 2051-2059, 2016.
|
|
|
|
|
|
[PubMed: 27207549]
|
|
|
|
|
|
[Full Text: https://doi.org/10.2337/db16-0099]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W.
|
|
<strong>Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.</strong>
|
|
Nature Genet. 14: 337-340, 1996.
|
|
|
|
|
|
[PubMed: 8896567]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1196-337]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Malthus, R., Clark, D. G., Watts, C., Sneyd, J. G. T.
|
|
<strong>Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase.</strong>
|
|
Biochem. J. 188: 99-106, 1980.
|
|
|
|
|
|
[PubMed: 6931596]
|
|
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|
|
[Full Text: https://doi.org/10.1042/bj1880099]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
|
|
<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
|
|
Molec. Genet. Metab. 113: 171-176, 2014.
|
|
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|
|
|
[PubMed: 25266922]
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|
[Full Text: https://doi.org/10.1016/j.ymgme.2014.09.005]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shiomi, S., Saeki, Y., Kim. K., Nishiguchi, S., Seki, S., Kuroki, T., Kobayashi, K., Harihara, S., Owada, M.
|
|
<strong>A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.</strong>
|
|
Gastroent. Jpn. 24: 711-714, 1989.
|
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|
|
|
[PubMed: 2558039]
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|
|
[Full Text: https://doi.org/10.1007/BF02774172]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Sovik, O., deBarsy, T., Maehle, B.
|
|
<strong>Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (Letter)</strong>
|
|
Europ. J. Pediat. 139: 210 only, 1982.
|
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|
[PubMed: 6962066]
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[Full Text: https://doi.org/10.1007/BF01377363]
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Whitmore, S. A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., Sutherland, G. R., Callen, D. F.
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<strong>Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.</strong>
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Genomics 20: 169-175, 1994.
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[PubMed: 8020963]
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[Full Text: https://doi.org/10.1006/geno.1994.1150]
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Hilary J. Vernon - updated : 07/15/2021<br>Marla J. F. O'Neill - updated : 08/17/2016<br>Ada Hamosh - updated : 5/27/2015<br>Cassandra L. Kniffin - updated : 9/24/2009<br>Michael J. Wright - updated : 7/20/2001<br>Victor A. McKusick - updated : 3/26/1998
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Victor A. McKusick : 4/4/1994
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carol : 07/15/2021<br>joanna : 10/28/2016<br>carol : 08/17/2016<br>carol : 06/23/2016<br>mcolton : 8/19/2015<br>alopez : 5/27/2015<br>mcolton : 5/1/2014<br>ckniffin : 10/6/2009<br>carol : 10/1/2009<br>ckniffin : 9/24/2009<br>terry : 3/3/2009<br>carol : 1/6/2009<br>carol : 4/17/2007<br>carol : 4/17/2007<br>mgross : 3/17/2004<br>alopez : 7/27/2001<br>terry : 7/20/2001<br>terry : 7/20/2001<br>dkim : 7/7/1998<br>alopez : 3/26/1998<br>terry : 3/20/1998<br>jamie : 11/6/1996<br>terry : 10/31/1996<br>terry : 10/29/1996<br>carol : 4/4/1994
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