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Entry
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- *616830 - TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2
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- OMIM
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<p>
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<span class="h4">*616830</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</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/616830">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000183597;t=ENST00000327374" 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=128989" 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=616830" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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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=ENSG00000183597;t=ENST00000327374" 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_001283106,NM_001283116,NM_001283129,NM_001283148,NM_001283154,NM_001283179,NM_001283186,NM_001283199,NM_001283215,NM_001283235,NM_001283248,NM_001322141,NM_001322142,NM_001322143,NM_001322144,NM_001322145,NM_001322146,NM_001322147,NM_001322148,NM_001322149,NM_001322150,NM_001322153,NM_001322155,NM_001322160,NM_001322163,NM_001322166,NM_001322167,NM_001322169,NM_001322171,NM_001322172,NM_001322173,NM_001322174,NM_001322175,NM_152906,NR_104274,NR_104275,NR_136206,NR_136211,NR_136212,XM_017028577,XM_017028579,XM_017028580,XM_017028585,XM_017028586,XM_047441118,XM_047441119,XM_047441120,XM_047441121,XM_047441122,XM_047441123,XM_047441124,XM_047441125,XM_047441126,XM_047441127,XM_047441128,XM_047441129,XM_047441130,XM_047441131,XM_047441132" 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_152906" 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=616830" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/TANGO2" 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/19584311,21751093,27371221,47678241,50949984,74709518,119623406,119623407,119623408,119623409,119623410,119623411,158260747,190570176,221040672,221041628,221042028,221042284,221043442,221043578,221045428,221045500,545686639,545687069,545687135,545687206,545687403,545687415,545687686,545687800,545688211,545688677,545688709,1015809669,1015809678,1015809685,1015809688,1015809692,1015809694,1015809702,1015809707,1015809711,1015809713,1015809728,1015809730,1015809741,1015809745,1015809751,1015809753,1015809760,1015809768,1015809772,1015809778,1015809794,1015809812,1034628223,1034628227,1034628229,1034628239,1034628241,2217338872,2217338877,2217338879,2217338881,2217338883,2217338885,2217338887,2217338891,2217338893,2217338895,2217338897,2217338899,2217338901,2217338903,2217338905,2462583713,2462583715,2462583717,2462583719,2462583721,2462583723,2462583725,2462583727,2462583729,2462583731,2462583733,2462583735,2462583737,2462583739,2462583741,2462583743,2462583745,2462583747,2462583749,2462583751,2462583753,2462583755" 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/Q6ICL3" 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=128989" 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=ENSG00000183597;t=ENST00000327374" 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=TANGO2" 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=TANGO2" 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+128989" 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/TANGO2" 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:128989" 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/128989" 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=chr22&hgg_gene=ENST00000327374.9&hgg_start=20017023&hgg_end=20067164&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616830[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 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=616830[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/TANGO2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000183597" 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=TANGO2" 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=TANGO2" 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=TANGO2" 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=TANGO2&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/PA143485406" 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:25439" 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/FBgn0030503.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:101825" 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/TANGO2#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:101825" 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/128989/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=128989" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011305;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011305 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013587;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013587 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040808-42" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TANGO2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1172698005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616830
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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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TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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TRANSPORT AND GOLGI ORGANIZATION 2, DROSOPHILA, HOMOLOG OF<br />
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CHROMOSOME 22 OPEN READING FRAME 25; C22ORF25
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TANGO2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TANGO2</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/22/54?start=-3&limit=10&highlight=54">22q11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:20017023-20067164&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'})">22:20,017,023-20,067,164</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>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</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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|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/54?start=-3&limit=10&highlight=54">
|
|
22q11.21
|
|
</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616878"> 616878 </a>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<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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<p>Proteins of the TANGO family, such as TANGO2, are predicted to function in cargo loading of newly synthesized secretory proteins in the endoplasmic reticulum (summary by <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" 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="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> found that the TANGO2 protein localized to the Golgi and cytoplasm. <a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a> reported that the first 30 amino acids of TANGO2 constitute a mitochondrial targeting signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26805782+26805781" 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="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> determined that the TANGO2 gene contains at least 8 coding exons and a 5-prime noncoding exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" 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="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> and <a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a> reported that the TANGO2 gene maps to chromosome 22q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26805782+26805781" 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="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> performed whole-exome sequencing in 12 patients from 9 families with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), who were negative for mutation in rhabdomyolysis-associated genes, and identified homozygosity or compound heterozygosity for mutations in the TANGO2 gene (<a href="#0001">616830.0001</a>-<a href="#0004">616830.0004</a>) in all affected individuals. The mutations segregated fully with disease in the families, and none of the variants was present in homozygosity in control databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a> performed whole-exome sequencing in 3 unrelated individuals with MECRCN and identified homozygosity or compound heterozygosity for mutations in the TANGO2 gene in all 3 patients (<a href="#0002">616830.0002</a>; <a href="#0005">616830.0005</a>-<a href="#0006">616830.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 11 patients from 7 families, including 4 sib pairs, with MECRCN, <a href="#4" class="mim-tip-reference" title="Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N. <strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong> J. Inherit. Metab. Dis. 42: 898-908, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>] [<a href="https://doi.org/10.1002/jimd.12149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31276219">Jennions et al. (2019)</a> identified biallelic mutations in the TANGO2 gene (see, e.g., <a href="#0002">616830.0002</a>; <a href="#0004">616830.0004</a>; <a href="#0007">616830.0007</a>-<a href="#0010">616830.0010</a>). The most common mutation, deletion of exons 3-9 (<a href="#0002">616830.0002</a>), was found in 5 patients from 3 families. All of the mutations were absent or extremely rare (less than 0.002%) in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" 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="Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintron, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., and 20 others. <strong>TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.</strong> Genet. Med. 21: 601-607, 2019. Note: Erratum: Genet. Med. 21: 1899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245509</a>] [<a href="https://doi.org/10.1038/s41436-018-0137-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30245509">Dines et al. (2019)</a> reported 14 patients from 11 families, including a sib pair and a sib trio, with MECRCN and biallelic mutations in the TANGO2 gene. The most common mutation was the exon 3-9 deletion, which was homozygous in 5 families and compound heterozygous in 4 families. The other mutations included a splice site mutation (<a href="#0009">616830.0009</a>), a nonsense mutation (R32X), an exon 6 deletion, and 2 missense mutations (R26K; G89C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 20 patients from 14 families with MECRCN, <a href="#1" class="mim-tip-reference" title="Berat, C. M., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., Debruge, H., Cano, A., Chabrol, B., Hoebeke, C., Polak, M., Stoupa, A., Feillet, F., and 19 others. <strong>Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.</strong> J. Inherit. Metab. Dis. 44: 415-425, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32929747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32929747</a>] [<a href="https://doi.org/10.1002/jimd.12314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32929747">Berat et al. (2021)</a> identified homozygous or compound heterozygous mutations in the TANGO2 gene. The mutations included 7 point mutations (5 of which were novel), 2 small deletions, and 1 exon 3-9 deletion. Oxidation of palmitate and glutamate were measured in myoblasts from 2 patients (patients 11 and 18) and did not demonstrate an abnormality in the Krebs cycle or in mitochondrial fatty acid oxidation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32929747" 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="#3" class="mim-tip-reference" title="Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., Koppes, E., Haas, R., Vockley, J., Ghaloul-Gonzalez, L. <strong>Mitochondrial dysfunction associated with TANGO2 deficiency.</strong> Sci. Rep. 12: 3045, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35197517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35197517</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35197517[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41598-022-07076-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35197517">Heiman et al. (2022)</a> evaluated the mitochondrial phenotype in fibroblasts from 3 individuals, including a sib pair, with MECRCN and biallelic mutations in the TANGO2 gene. The sibs (patients 1 and 2) were homozygous for the recurrent deletion of exons 3-9, and patient 3 was compound heterozygous for the exon 3-9 deletion and a splice site mutation (c.605+1G-A). TANGO2 protein expression was absent in fibroblasts from all 3 patients, whereas it was present in whole cell extracts and mitochondrial cellular fractions in control fibroblasts. ATP content was significantly decreased, and reduced oleate flux through fatty acid oxidation was demonstrated in patient fibroblasts. Mitochondrial volume, mtDNA, and oxygen consumption rates were also decreased in patient fibroblasts compared to controls. <a href="#3" class="mim-tip-reference" title="Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., Koppes, E., Haas, R., Vockley, J., Ghaloul-Gonzalez, L. <strong>Mitochondrial dysfunction associated with TANGO2 deficiency.</strong> Sci. Rep. 12: 3045, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35197517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35197517</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35197517[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41598-022-07076-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35197517">Heiman et al. (2022)</a> concluded that these results indicate broad mitochondrial dysfunction in MECRCN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35197517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>10 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616830[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000210033 OR RCV000210337 OR RCV001857677" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210033, RCV000210337, RCV001857677" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210033...</a>
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<p>In affected members of 4 Hispanic families (families 1, 3, 4, and 5) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> identified homozygosity for a c.460G-A transition (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000245441" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000245441</a>) in exon 7 of the TANGO2 gene, resulting in a gly154-to-arg (G154R) substitution at a highly conserved residue. The mutation segregated with disease in the 3 families for which parental DNA was available. The authors noted that the G154R variant was enriched in the Hispanic/Latino population, with a minor allele frequency of 0.26% in the ExAC database (overall frequency, 0.02%); however, no G154R homozygotes had been reported in the ExAC, 1000 Genomes Project, dbSNP (build 134), or NHLBI GO Exome Sequencing Project databases. Patient fibroblasts showed evidence of increased endoplasmic reticulum stress and a reduction in Golgi volume density compared to control, suggesting that disruptions in TANGO2 result in an imbalance in the vesicular pathway. <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> also studied an affected 6-year-old girl from a family of Hispanic/European origin, who was compound heterozygous for the G154R mutation and an approximately 34-bp deletion (<a href="#0002">616830.0002</a>) in the TANGO2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 affected children from 2 unrelated families (families 7 and 8) of European origin with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> identified homozygosity for an approximately 34-kb deletion (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000245443" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000245443</a>) encompassing exon 3 to exon 9 of the TANGO2 gene. In a family of Hispanic/European origin, the proband was compound heterozygous for the exon 3-9 deletion and a missense mutation (G154R; <a href="#0001">616830.0001</a>). The unaffected parents in all 3 families were heterozygous carriers of the mutations. The authors stated that the 34-kb deletion had a European-specific minor allele frequency of at least 0.062%, but that no homozygous deletions had been reported in public databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 25-year-old woman with MECRCN (patient 3), <a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a> identified homozygosity for the 34.6-kb deletion involving exons 3-9 (c.[(56+1_57-1)_(*1_?)del], NM_152906.5) of the TANGO2 gene. Her unaffected parents were heterozygous for the deletion, which the authors noted was found in heterozygosity 7 times in an in-house database of 5,300 exomes (minor allele frequency, 0.13%). In addition, an unrelated 3.25-year-old girl with MECRCN (patient 1) was compound heterozygous for the exon 3-9 deletion and a 1-bp deletion in exon 2 (c.4delT; <a href="#0005">616830.0005</a>), causing a frameshift predicted to result in a premature termination codon (Cys2AlafsTer35). Her parents were each heterozygous for 1 of the mutations. The authors stated that the 1-bp deletion was not found in in-house control exomes or in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805782" 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 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
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TANGO2, IVS7, G-A, +1 (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000245442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000245442</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs372949028 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs372949028;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/rs372949028?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=rs372949028" 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=rs372949028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Hispanic boy (family 6) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), who was born of consanguineous parents, <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> identified homozygosity for a c.605+1G-A transition (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000245442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000245442</a>) in intron 7 of the TANGO2 gene. His unaffected parents were heterozygous carriers of the mutation. The authors noted that this splice site variant had been reported in the ExAC database with a minor allele frequency of 0.25% in the Latino population (overall frequency, 0.03%), but that no homozygotes had been reported in control databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000210034 OR RCV000210336" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210034, RCV000210336" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210034...</a>
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<p>In 2 affected sibs from a consanguineous Saudi Arabian family (family 9) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#6" class="mim-tip-reference" title="Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others. <strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong> Am. J. Hum. Genet. 98: 347-357, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805781">Lalani et al. (2016)</a> identified homozygosity for an approximately 9-kb deletion (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000245444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000245444</a>) encompassing exon 4 to exon 6 of the TANGO2 gene. The unaffected parents were each heterozygous for the deletion, which was not found in public databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" 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 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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">rs869320693 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320693;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=rs869320693" 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=rs869320693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion (c.4delT, NM_152906.5) in exon 2 of the TANGO2 gene, causing a frameshift predicted to result in a premature termination codon (Cys2AlafsTer35), that was found in compound heterozygous state in a patient with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), by <a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a>, see <a href="#0002">616830.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805782" 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 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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">rs764883927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs764883927;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=rs764883927" 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=rs764883927" 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=RCV000210334 OR RCV001250177 OR RCV002515582" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210334, RCV001250177, RCV002515582" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210334...</a>
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<p>In a 12.5-year-old girl (patient 2) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#5" class="mim-tip-reference" title="Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others. <strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong> Am. J. Hum. Genet. 98: 358-362, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805782">Kremer et al. (2016)</a> identified homozygosity for a c.418C-T transition (c.418C-T, NM_152906.5) in exon 6 of the TANGO2 gene, resulting in an arg140-to-ter (R140X) substitution. The mutation was present in heterozygosity in her unaffected parents, and was found once in heterozygosity in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805782" 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 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002290394 OR RCV003774968" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002290394, RCV003774968" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002290394...</a>
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<p>In a 34-month-old Arab patient (family 2) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#4" class="mim-tip-reference" title="Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N. <strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong> J. Inherit. Metab. Dis. 42: 898-908, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>] [<a href="https://doi.org/10.1002/jimd.12149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31276219">Jennions et al. (2019)</a> identified homozygosity for a 1-bp deletion (c.280delC) in exon 5 of the TANGO2 gene, predicted to result in a frameshift and premature termination (His94ThrfsTer3). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1191958022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1191958022;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/rs1191958022?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=rs1191958022" 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=rs1191958022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs (family 4) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#4" class="mim-tip-reference" title="Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N. <strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong> J. Inherit. Metab. Dis. 42: 898-908, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>] [<a href="https://doi.org/10.1002/jimd.12149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31276219">Jennions et al. (2019)</a> identified compound heterozygous mutations in the TANGO2 gene: a c.59T-G transversion in exon 3, resulting in a leu20-to-arg (L20R) substitution, and a c.711-3C-G transversion in intron 8 (<a href="#0009">616830.0009</a>), predicted to result in a splicing abnormality. The mutations were identified by direct sequencing of the TANGO2 gene and segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" 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>.0009 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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> rs367912276 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367912276;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/rs367912276?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=rs367912276" 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=rs367912276" 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=RCV000498948 OR RCV001764479" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000498948, RCV001764479" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000498948...</a>
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<p>For discussion of the c.711-3C-G transversion in intron 8 of the TANGO2 gene, predicted to result in a splicing abnormality, that was found in compound heterozygous state in 2 sibs (family 4) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>) by <a href="#4" class="mim-tip-reference" title="Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N. <strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong> J. Inherit. Metab. Dis. 42: 898-908, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>] [<a href="https://doi.org/10.1002/jimd.12149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31276219">Jennions et al. (2019)</a>, see <a href="#0008">616830.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (P1) with MECRCN, <a href="#2" class="mim-tip-reference" title="Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintron, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., and 20 others. <strong>TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.</strong> Genet. Med. 21: 601-607, 2019. Note: Erratum: Genet. Med. 21: 1899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245509</a>] [<a href="https://doi.org/10.1038/s41436-018-0137-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30245509">Dines et al. (2019)</a> identified compound heterozygosity for the intron 8 splice site mutation (c.711-3C-G, NM_153906.6) and the recurrent 34-kb deletion (<a href="#0002">616830.0002</a>) in the TANGO2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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> rs140115503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs140115503;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/rs140115503?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=rs140115503" 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=rs140115503" 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=RCV001761402 OR RCV001868552" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001761402, RCV001868552" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001761402...</a>
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<p>In 2 sibs, born of consanguineous North African parents (family 6), with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; <a href="/entry/616878">616878</a>), <a href="#4" class="mim-tip-reference" title="Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N. <strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong> J. Inherit. Metab. Dis. 42: 898-908, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>] [<a href="https://doi.org/10.1002/jimd.12149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31276219">Jennions et al. (2019)</a> identified homozygosity for a c.262C-T transition in the TANGO2 gene, resulting in an arg88-to-ter (R88X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Berat2021" class="mim-anchor"></a>
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Berat, C. M., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., Debruge, H., Cano, A., Chabrol, B., Hoebeke, C., Polak, M., Stoupa, A., Feillet, F., and 19 others.
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<strong>Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.</strong>
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J. Inherit. Metab. Dis. 44: 415-425, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32929747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32929747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32929747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jimd.12314" target="_blank">Full Text</a>]
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Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintron, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., and 20 others.
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<strong>TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.</strong>
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Genet. Med. 21: 601-607, 2019. Note: Erratum: Genet. Med. 21: 1899, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245509" 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/s41436-018-0137-y" target="_blank">Full Text</a>]
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Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., Koppes, E., Haas, R., Vockley, J., Ghaloul-Gonzalez, L.
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<strong>Mitochondrial dysfunction associated with TANGO2 deficiency.</strong>
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Sci. Rep. 12: 3045, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35197517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35197517</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35197517[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35197517" 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/s41598-022-07076-9" target="_blank">Full Text</a>]
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Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N.
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<strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong>
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J. Inherit. Metab. Dis. 42: 898-908, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31276219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31276219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31276219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jimd.12149" target="_blank">Full Text</a>]
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Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others.
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<strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong>
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Am. J. Hum. Genet. 98: 358-362, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805782</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805782[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.12.009" target="_blank">Full Text</a>]
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Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others.
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<strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong>
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Am. J. Hum. Genet. 98: 347-357, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.12.008" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 01/27/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/24/2016
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/23/2016
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/27/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 09/16/2019<br>carol : 05/09/2019<br>carol : 04/13/2017<br>alopez : 03/25/2016<br>alopez : 3/24/2016<br>alopez : 3/24/2016<br>carol : 2/23/2016
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<h3>
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<span class="mim-font">
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<strong>*</strong> 616830
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</h3>
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<h3>
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TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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TRANSPORT AND GOLGI ORGANIZATION 2, DROSOPHILA, HOMOLOG OF<br />
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CHROMOSOME 22 OPEN READING FRAME 25; C22ORF25
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TANGO2</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1172698005;
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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: 22q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:20,017,023-20,067,164 </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 class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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22q11.21
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<span class="mim-font">
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Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
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</td>
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<td>
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<span class="mim-font">
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616878
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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 class="mim-text-font">
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<p>Proteins of the TANGO family, such as TANGO2, are predicted to function in cargo loading of newly synthesized secretory proteins in the endoplasmic reticulum (summary by Lalani et al., 2016). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Lalani et al. (2016) found that the TANGO2 protein localized to the Golgi and cytoplasm. Kremer et al. (2016) reported that the first 30 amino acids of TANGO2 constitute a mitochondrial targeting signal. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Lalani et al. (2016) determined that the TANGO2 gene contains at least 8 coding exons and a 5-prime noncoding exon. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lalani et al. (2016) and Kremer et al. (2016) reported that the TANGO2 gene maps to chromosome 22q11.2. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Lalani et al. (2016) performed whole-exome sequencing in 12 patients from 9 families with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), who were negative for mutation in rhabdomyolysis-associated genes, and identified homozygosity or compound heterozygosity for mutations in the TANGO2 gene (616830.0001-616830.0004) in all affected individuals. The mutations segregated fully with disease in the families, and none of the variants was present in homozygosity in control databases. </p><p>Kremer et al. (2016) performed whole-exome sequencing in 3 unrelated individuals with MECRCN and identified homozygosity or compound heterozygosity for mutations in the TANGO2 gene in all 3 patients (616830.0002; 616830.0005-616830.0006). </p><p>In 11 patients from 7 families, including 4 sib pairs, with MECRCN, Jennions et al. (2019) identified biallelic mutations in the TANGO2 gene (see, e.g., 616830.0002; 616830.0004; 616830.0007-616830.0010). The most common mutation, deletion of exons 3-9 (616830.0002), was found in 5 patients from 3 families. All of the mutations were absent or extremely rare (less than 0.002%) in the gnomAD database. </p><p>Dines et al. (2019) reported 14 patients from 11 families, including a sib pair and a sib trio, with MECRCN and biallelic mutations in the TANGO2 gene. The most common mutation was the exon 3-9 deletion, which was homozygous in 5 families and compound heterozygous in 4 families. The other mutations included a splice site mutation (616830.0009), a nonsense mutation (R32X), an exon 6 deletion, and 2 missense mutations (R26K; G89C). </p><p>In 20 patients from 14 families with MECRCN, Berat et al. (2021) identified homozygous or compound heterozygous mutations in the TANGO2 gene. The mutations included 7 point mutations (5 of which were novel), 2 small deletions, and 1 exon 3-9 deletion. Oxidation of palmitate and glutamate were measured in myoblasts from 2 patients (patients 11 and 18) and did not demonstrate an abnormality in the Krebs cycle or in mitochondrial fatty acid oxidation. </p><p>Heiman et al. (2022) evaluated the mitochondrial phenotype in fibroblasts from 3 individuals, including a sib pair, with MECRCN and biallelic mutations in the TANGO2 gene. The sibs (patients 1 and 2) were homozygous for the recurrent deletion of exons 3-9, and patient 3 was compound heterozygous for the exon 3-9 deletion and a splice site mutation (c.605+1G-A). TANGO2 protein expression was absent in fibroblasts from all 3 patients, whereas it was present in whole cell extracts and mitochondrial cellular fractions in control fibroblasts. ATP content was significantly decreased, and reduced oleate flux through fatty acid oxidation was demonstrated in patient fibroblasts. Mitochondrial volume, mtDNA, and oxygen consumption rates were also decreased in patient fibroblasts compared to controls. Heiman et al. (2022) concluded that these results indicate broad mitochondrial dysfunction in MECRCN. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, GLY154ARG ({dbSNP SCV000245441})
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<br />
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SNP: rs752298579,
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gnomAD: rs752298579,
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ClinVar: RCV000210033, RCV000210337, RCV001857677
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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 affected members of 4 Hispanic families (families 1, 3, 4, and 5) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Lalani et al. (2016) identified homozygosity for a c.460G-A transition (SCV000245441) in exon 7 of the TANGO2 gene, resulting in a gly154-to-arg (G154R) substitution at a highly conserved residue. The mutation segregated with disease in the 3 families for which parental DNA was available. The authors noted that the G154R variant was enriched in the Hispanic/Latino population, with a minor allele frequency of 0.26% in the ExAC database (overall frequency, 0.02%); however, no G154R homozygotes had been reported in the ExAC, 1000 Genomes Project, dbSNP (build 134), or NHLBI GO Exome Sequencing Project databases. Patient fibroblasts showed evidence of increased endoplasmic reticulum stress and a reduction in Golgi volume density compared to control, suggesting that disruptions in TANGO2 result in an imbalance in the vesicular pathway. Lalani et al. (2016) also studied an affected 6-year-old girl from a family of Hispanic/European origin, who was compound heterozygous for the G154R mutation and an approximately 34-bp deletion (616830.0002) in the TANGO2 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, 34-KB DEL, EX3-9DEL ({dbSNP SCV000245443})
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<br />
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ClinVar: RCV000210032, RCV000210339
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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 4 affected children from 2 unrelated families (families 7 and 8) of European origin with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Lalani et al. (2016) identified homozygosity for an approximately 34-kb deletion (SCV000245443) encompassing exon 3 to exon 9 of the TANGO2 gene. In a family of Hispanic/European origin, the proband was compound heterozygous for the exon 3-9 deletion and a missense mutation (G154R; 616830.0001). The unaffected parents in all 3 families were heterozygous carriers of the mutations. The authors stated that the 34-kb deletion had a European-specific minor allele frequency of at least 0.062%, but that no homozygous deletions had been reported in public databases. </p><p>In a 25-year-old woman with MECRCN (patient 3), Kremer et al. (2016) identified homozygosity for the 34.6-kb deletion involving exons 3-9 (c.[(56+1_57-1)_(*1_?)del], NM_152906.5) of the TANGO2 gene. Her unaffected parents were heterozygous for the deletion, which the authors noted was found in heterozygosity 7 times in an in-house database of 5,300 exomes (minor allele frequency, 0.13%). In addition, an unrelated 3.25-year-old girl with MECRCN (patient 1) was compound heterozygous for the exon 3-9 deletion and a 1-bp deletion in exon 2 (c.4delT; 616830.0005), causing a frameshift predicted to result in a premature termination codon (Cys2AlafsTer35). Her parents were each heterozygous for 1 of the mutations. The authors stated that the 1-bp deletion was not found in in-house control exomes or in the ExAC database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, IVS7, G-A, +1 ({dbSNP SCV000245442})
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<br />
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SNP: rs372949028,
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gnomAD: rs372949028,
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ClinVar: RCV000210035, RCV000210343, RCV000850088, RCV001836751, RCV004734845
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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 Hispanic boy (family 6) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), who was born of consanguineous parents, Lalani et al. (2016) identified homozygosity for a c.605+1G-A transition (SCV000245442) in intron 7 of the TANGO2 gene. His unaffected parents were heterozygous carriers of the mutation. The authors noted that this splice site variant had been reported in the ExAC database with a minor allele frequency of 0.25% in the Latino population (overall frequency, 0.03%), but that no homozygotes had been reported in control databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, 9-KB DEL ({dbSNP SCV000245444})
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<br />
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ClinVar: RCV000210034, RCV000210336
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected sibs from a consanguineous Saudi Arabian family (family 9) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Lalani et al. (2016) identified homozygosity for an approximately 9-kb deletion (SCV000245444) encompassing exon 4 to exon 6 of the TANGO2 gene. The unaffected parents were each heterozygous for the deletion, which was not found in public databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, 1-BP DEL, 4T
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<br />
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SNP: rs869320693,
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ClinVar: RCV000210340, RCV001589106
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.4delT, NM_152906.5) in exon 2 of the TANGO2 gene, causing a frameshift predicted to result in a premature termination codon (Cys2AlafsTer35), that was found in compound heterozygous state in a patient with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), by Kremer et al. (2016), see 616830.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, ARG140TER
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<br />
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SNP: rs764883927,
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ClinVar: RCV000210334, RCV001250177, RCV002515582
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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 12.5-year-old girl (patient 2) with recurrent metabolic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Kremer et al. (2016) identified homozygosity for a c.418C-T transition (c.418C-T, NM_152906.5) in exon 6 of the TANGO2 gene, resulting in an arg140-to-ter (R140X) substitution. The mutation was present in heterozygosity in her unaffected parents, and was found once in heterozygosity in the ExAC database. </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>.0007 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
|
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</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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TANGO2, 1-BP DEL, 280C
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<br />
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ClinVar: RCV002290394, RCV003774968
|
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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 34-month-old Arab patient (family 2) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Jennions et al. (2019) identified homozygosity for a 1-bp deletion (c.280delC) in exon 5 of the TANGO2 gene, predicted to result in a frameshift and premature termination (His94ThrfsTer3). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</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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TANGO2, LEU20ARG
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<br />
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SNP: rs1191958022,
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gnomAD: rs1191958022,
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ClinVar: RCV001761391
|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 sibs (family 4) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Jennions et al. (2019) identified compound heterozygous mutations in the TANGO2 gene: a c.59T-G transversion in exon 3, resulting in a leu20-to-arg (L20R) substitution, and a c.711-3C-G transversion in intron 8 (616830.0009), predicted to result in a splicing abnormality. The mutations were identified by direct sequencing of the TANGO2 gene and segregated with disease in the family. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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TANGO2, IVS8, C-G, -3
|
|
|
|
|
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<br />
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|
|
SNP: rs367912276,
|
|
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|
|
|
gnomAD: rs367912276,
|
|
|
|
|
|
ClinVar: RCV000498948, RCV001764479
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.711-3C-G transversion in intron 8 of the TANGO2 gene, predicted to result in a splicing abnormality, that was found in compound heterozygous state in 2 sibs (family 4) with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878) by Jennions et al. (2019), see 616830.0008. </p><p>In a patient (P1) with MECRCN, Dines et al. (2019) identified compound heterozygosity for the intron 8 splice site mutation (c.711-3C-G, NM_153906.6) and the recurrent 34-kb deletion (616830.0002) in the TANGO2 gene. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
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|
<br />
|
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</div>
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|
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TANGO2, ARG88TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs140115503,
|
|
|
|
|
|
gnomAD: rs140115503,
|
|
|
|
|
|
ClinVar: RCV001761402, RCV001868552
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous North African parents (family 6), with recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN; 616878), Jennions et al. (2019) identified homozygosity for a c.262C-T transition in the TANGO2 gene, resulting in an arg88-to-ter (R88X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </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>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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<p class="mim-text-font">
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Berat, C. M., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., Debruge, H., Cano, A., Chabrol, B., Hoebeke, C., Polak, M., Stoupa, A., Feillet, F., and 19 others.
|
|
<strong>Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.</strong>
|
|
J. Inherit. Metab. Dis. 44: 415-425, 2021.
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[PubMed: 32929747]
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[Full Text: https://doi.org/10.1002/jimd.12314]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintron, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., and 20 others.
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<strong>TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.</strong>
|
|
Genet. Med. 21: 601-607, 2019. Note: Erratum: Genet. Med. 21: 1899, 2019.
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[PubMed: 30245509]
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[Full Text: https://doi.org/10.1038/s41436-018-0137-y]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., Koppes, E., Haas, R., Vockley, J., Ghaloul-Gonzalez, L.
|
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<strong>Mitochondrial dysfunction associated with TANGO2 deficiency.</strong>
|
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Sci. Rep. 12: 3045, 2022.
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[PubMed: 35197517]
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[Full Text: https://doi.org/10.1038/s41598-022-07076-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Jennions, E., Hedberg-Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., Darin, N.
|
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<strong>TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.</strong>
|
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J. Inherit. Metab. Dis. 42: 898-908, 2019.
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[PubMed: 31276219]
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[Full Text: https://doi.org/10.1002/jimd.12149]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., and 9 others.
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<strong>Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.</strong>
|
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Am. J. Hum. Genet. 98: 358-362, 2016.
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[PubMed: 26805782]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.12.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., and 40 others.
|
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<strong>Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations.</strong>
|
|
Am. J. Hum. Genet. 98: 347-357, 2016.
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[PubMed: 26805781]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.12.008]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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 : 01/27/2023<br>Marla J. F. O'Neill - updated : 3/24/2016
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</span>
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</div>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/23/2016
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</span>
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Edit History:
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<span class="mim-text-font">
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carol : 01/27/2023<br>carol : 09/16/2019<br>carol : 05/09/2019<br>carol : 04/13/2017<br>alopez : 03/25/2016<br>alopez : 3/24/2016<br>alopez : 3/24/2016<br>carol : 2/23/2016
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