3216 lines
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Entry
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- *615000 - TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*615000</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</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="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615000">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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div 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=ENSG00000196663;t=ENST00000359520" 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=9895" 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=615000" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000196663;t=ENST00000359520" 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_001172631,NM_014844" 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_014844" 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=615000" 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/TECPR2" 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/2224535,34534753,119602193,119602194,119602195,119602196,148744358,148745352,194383014,194389156,223459688,289547515,289547517,313104289,929653876" 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/O15040" 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=9895" 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=ENSG00000196663;t=ENST00000359520" 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=TECPR2" 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=TECPR2" 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+9895" 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/TECPR2" 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:9895" 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/9895" 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=chr14&hgg_gene=ENST00000359520.12&hgg_start=102362941&hgg_end=102502477&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19957" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/tecpr2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=615000[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/TECPR2/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/ENSG00000196663" 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=TECPR2" 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=TECPR2" 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=TECPR2" 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=TECPR2&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/PA164726437" 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:19957" 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/FBgn0033177.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:2144865" 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/TECPR2#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:2144865" 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/9895/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://omia.org/OMIA001975/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9895" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060503-358" 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=TECPR2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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615000
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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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TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2
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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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KIAA0329
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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=TECPR2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TECPR2</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/14/564?start=-3&limit=10&highlight=564">14q32.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:102362941-102502477&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'})">14:102,362,941-102,502,477</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/14/564?start=-3&limit=10&highlight=564">
|
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14q32.31
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615031"> 615031 </a>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/615000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> cloned TECPR2, which they designated KIAA0329. The deduced 1,411-amino acid protein shares significant similarity with an Aspergillus nidulans SepB, a protein involved in cell division. RT-PCR analysis detected highest TECPR2 expression in kidney, followed by ovary and testis. SDS-PAGE detected in vitro translated TECPR2 at an apparent molecular mass above 100 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> mapped the TECPR2 gene to chromosome 14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 12/20/2012."None>Hartz (2012)</a> mapped the TECPR2 gene to chromosome 14q32.31 based on an alignment of the TECPR2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB002327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB002327</a>) with the genomic sequence (GRCh37).</p>
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<p>In affected members of 3 Jewish Bukharian families with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), originally diagnosed with autosomal recessive spastic paraplegia-49 (SPG49), <a href="#6" class="mim-tip-reference" title="Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D. <strong>Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.</strong> Am. J. Hum. Genet. 91: 1065-1072, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176824[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.2012.09.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176824">Oz-Levi et al. (2012)</a> identified a homozygous frameshift mutation in the TECPR2 gene (c.3416delT; <a href="#0001">615000.0001</a>). The mutation was found by exome sequencing and segregated with the disorder in each family. The phenotype was characterized by delayed motor development, spastic paraparesis, gastroesophageal reflux, and recurrent apneic episodes. The patients also had impaired intellectual development and mild dysmorphic features. Skin fibroblasts from an affected individual showed impaired expression of the autophagocytic proteins SQSTM1 (<a href="/entry/601530">601530</a>) and MAP1LC3B (<a href="/entry/609604">609604</a>) in response to various conditions that should have increased the levels of these proteins. The findings suggested that TECPR2 mutations cause impairment of the intracellular autophagy pathway, with attenuation of delivery of targeted proteins to the lysosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients of Ashkenazi or Ashkenazi/Turkish descent with HSAN9, <a href="#3" class="mim-tip-reference" title="Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B. <strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong> Europ. J. Paediat. Neurol. 20: 69-79, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26542466">Heimer et al. (2016)</a> identified homozygous or compound heterozygous mutations in the TECPR2 gene (<a href="#0001">615000.0001</a>-<a href="#0003">615000.0003</a>). The mutations, which were identified by whole-exome or Sanger sequencing, segregated with disease in each family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26542466" 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 5-year-old girl with HSAN9, <a href="#7" class="mim-tip-reference" title="Patwari, P. P., Wolfe, L. F., Sharma, G. D., Berry-Kravis, E. <strong>TECPR2 mutation-associated respiratory dysregulation: more than central apnea.</strong> J. Clin. Sleep Med. 16: 977-982, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32209221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32209221</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32209221[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/10.5664/jcsm.8434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32209221">Patwari et al. (2020)</a> identified compound heterozygous mutations the TECPR2 gene (<a href="#0004">615000.0004</a>; <a href="#0005">615000.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32209221" 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 16-year-old Italian girl with HSAN9, <a href="#1" class="mim-tip-reference" title="Covone, A. E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, M. G., Minetti, C. <strong>WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.</strong> Clin. Genet. 90: 182-185, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27406698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27406698</a>] [<a href="https://doi.org/10.1111/cge.12730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27406698">Covone et al. (2016)</a> identified compound heterozygosity for 2 missense mutations in the TECPR2 gene (NM_014844.3): c.898G-A (G300R) and c.2708C-T (T903M). The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The patient also had a mutation in the SPG7 gene (<a href="/entry/602783">602783</a>), which was present in her unaffected father. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27406698" 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 17 patients in 15 families segregating HSAN9 who were recruited through Gene Matcher or personal communication, <a href="#5" class="mim-tip-reference" title="Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others. <strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong> Hum. Mutat. 42: 762-776, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>] [<a href="https://doi.org/10.1002/humu.24206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33847017">Neuser et al. (2021)</a> identified homozygous or compound heterozygous mutations in the TECPR2 gene (see, e.g., <a href="#0001">615000.0001</a>; <a href="#0002">615000.0002</a>; <a href="#0006">615000.0006</a>-<a href="#0007">615000.0007</a>). The mutations were identified by whole-exome sequencing, genetic panel testing, or targeted Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Tamim-Yecheskel, B.-C., Fraiberg, M., Kokabi, K., Freud, S., Shatz, O., Marvaldi, L., Subic, N., Brenner, O., Tsoory, M., Eilam-Altstadter, R., Biton, I., Savidor, A., Dezorella, N., Heimer, G., Behrends, C., Ben-Zeev, B., Elazar, Z. <strong>A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.</strong> Autophagy 17: 3082-3095, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33218264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33218264</a>] [<a href="https://doi.org/10.1080/15548627.2020.1852724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33218264">Tamim-Yecheskel et al. (2021)</a> used CRISPR editing to generate a Tecpr2 knockout mouse. Western blot analysis in mouse embryonic fibroblasts showed absence of Tepcr2 protein expression. The knockout mice displayed sensory and gait defects, including abnormalities in motor coordination and hypersensitivity to thermal stimuli. Brain MRIs of 4- to 5-month-old knockout mice demonstrated signal abnormalities indicating inflammation and degeneration in several brain regions as well as abnormalities in gray and white matter of motor and sensory tracts. Studies in neuronal tissue of the knockout mice showed an overall decrease of neurofilament and a neuroaxonal dystrophy with axonal swelling in the medulla oblongata. In brainstem sections of 9-month-old knockout mice, autophagosomes were seen, and immunoblot analysis of the autophagosomes showed enrichment of MAP1LC3B (<a href="/entry/609604">609604</a>) and SQSTM1 (<a href="/entry/601530">601530</a>) but not of the lysosomal marker LAMP2 (<a href="/entry/309060">309060</a>). <a href="#8" class="mim-tip-reference" title="Tamim-Yecheskel, B.-C., Fraiberg, M., Kokabi, K., Freud, S., Shatz, O., Marvaldi, L., Subic, N., Brenner, O., Tsoory, M., Eilam-Altstadter, R., Biton, I., Savidor, A., Dezorella, N., Heimer, G., Behrends, C., Ben-Zeev, B., Elazar, Z. <strong>A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.</strong> Autophagy 17: 3082-3095, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33218264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33218264</a>] [<a href="https://doi.org/10.1080/15548627.2020.1852724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33218264">Tamim-Yecheskel et al. (2021)</a> concluded that these findings indicate that Tecpr2 plays a role in autophagy and autophagosome consumption. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33218264" 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>.0001 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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> rs751970061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs751970061;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/rs751970061?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=rs751970061" 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=rs751970061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 3 Jewish Bukharian families with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), who were originally diagnosed with autosomal recessive spastic paraplegia-49 (SPG49), <a href="#6" class="mim-tip-reference" title="Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D. <strong>Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.</strong> Am. J. Hum. Genet. 91: 1065-1072, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176824[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.2012.09.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176824">Oz-Levi et al. (2012)</a> identified a homozygous 1-bp deletion (c.3416delT) in exon 16 of the TECPR2 gene, resulting in a frameshift and premature termination (Leu1139ArgfsTer75). The mutation was found by exome sequencing and segregated with the disorder in each family. The mutation was not present in 2,007 non-Bukharian controls, but was found in 4 of 300 Jewish Bukharian control chromosomes, yielding an allele frequency of 0.013 in that ethnic group. In vitro cellular expression assays indicated that the mutant protein was degraded by the proteosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with HSAN9 (patient 3), <a href="#3" class="mim-tip-reference" title="Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B. <strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong> Europ. J. Paediat. Neurol. 20: 69-79, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26542466">Heimer et al. (2016)</a> identified compound heterozygosity for 2 mutations in the TECPR2 gene: c.3416delT (c.3416delT, NM_001172631) and a 1-bp deletion (c.1319delT; <a href="#0002">615000.0002</a>) in exon 8, predicted to result in a frameshift and premature termination (Leu440ArgfsTer19). The mutations were identified by Sanger sequencing of the TECPR2 gene, and both parents were shown to be mutation carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26542466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with HSAN9, <a href="#5" class="mim-tip-reference" title="Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others. <strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong> Hum. Mutat. 42: 762-776, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>] [<a href="https://doi.org/10.1002/humu.24206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33847017">Neuser et al. (2021)</a> identified homozygosity for the c.3416delT mutation in the TECPR2 gene. They noted that the minor allele frequency of the c.3416delT variant was 2/247,472 in only heterozygous state in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" 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 an Ashkenazi Jewish patient (patient 2) with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), <a href="#3" class="mim-tip-reference" title="Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B. <strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong> Europ. J. Paediat. Neurol. 20: 69-79, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26542466">Heimer et al. (2016)</a> identified homozygosity for 1-bp deletion (c.1319delT, NM_001172631) in exon 8 of the TECPR2 gene, predicted to result in a frameshift and premature termination (Leu440ArgfsTer19). The mutation was not present in the NHLBI Exome Sequencing Project and dbSNP (build 38) databases or in an in-house database of 240 exomes; it was identified in heterozygous state in 3 of 900 exomes in the Hadassah in-house database and in 9 of 2,000 exomes from the Ashkenazi exome project. In another Ashkenazi Jewish patient (patient 1), <a href="#3" class="mim-tip-reference" title="Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B. <strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong> Europ. J. Paediat. Neurol. 20: 69-79, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26542466">Heimer et al. (2016)</a> identified c.1319delT in compound heterozygous state with a c.566C-T transition in exon 3, resulting in a thr189-to-ile (T189I; <a href="#0003">615000.0003</a>) substitution. In patient 3, of Ashkenazi and Turkish descent, c.1319delT was found in compound heterozygous state with a previously identified c.3416delT mutation (<a href="#0001">615000.0001</a>). The mutations segregated with the phenotype in all 3 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26542466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients with HSAN9, <a href="#5" class="mim-tip-reference" title="Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others. <strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong> Hum. Mutat. 42: 762-776, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>] [<a href="https://doi.org/10.1002/humu.24206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33847017">Neuser et al. (2021)</a> identified the c.1319del founder mutation in the TECPR2 gene, in homozygosity in 4 and in compound heterozygosity in 1. They noted that the minor allele frequency of the c.1319del variant was 37/275,698 in only heterozygous state in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" 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>For discussion of the c.566C-T transition (c.566C-T, NM_001172631) in exon 3 of the TECPR2 gene, resulting in a thr189-to-ile (T189I) substitution, that was found in compound heterozygous state in a patient with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>) by <a href="#3" class="mim-tip-reference" title="Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B. <strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong> Europ. J. Paediat. Neurol. 20: 69-79, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26542466">Heimer et al. (2016)</a>, see <a href="#0002">615000.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26542466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with hereditary sensory and autonomic type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), <a href="#7" class="mim-tip-reference" title="Patwari, P. P., Wolfe, L. F., Sharma, G. D., Berry-Kravis, E. <strong>TECPR2 mutation-associated respiratory dysregulation: more than central apnea.</strong> J. Clin. Sleep Med. 16: 977-982, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32209221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32209221</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32209221[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/10.5664/jcsm.8434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32209221">Patwari et al. (2020)</a> identified compound heterozygous mutations in the TECPR2 gene: a 1-bp deletion (c.774delA), predicted to result in a frameshift and premature termination (Asp259MetfsTer44) and a 5-bp deletion (c.1028_1032delAAGGA; <a href="#0005">615000.0005</a>), predicted to result in a frameshift and premature termination (Lys343ArgfsTer2). The mutations were identified by whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32209221" 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> rs1359602238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1359602238;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/rs1359602238?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=rs1359602238" 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=rs1359602238" 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 5-bp deletion (c.1028_1032delAAGGA) in the TECPR2 gene, predicted to result in a frameshift and premature termination (Lys343ArgfsTer2), that was found in compound heterozygous state in a patient with hereditary sensory and autonomic type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>) by <a href="#7" class="mim-tip-reference" title="Patwari, P. P., Wolfe, L. F., Sharma, G. D., Berry-Kravis, E. <strong>TECPR2 mutation-associated respiratory dysregulation: more than central apnea.</strong> J. Clin. Sleep Med. 16: 977-982, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32209221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32209221</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32209221[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/10.5664/jcsm.8434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32209221">Patwari et al. (2020)</a>, see <a href="#0004">615000.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32209221" 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 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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">rs1891340555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1891340555;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=rs1891340555" 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=rs1891340555" 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=RCV001290270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001290270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001290270</a>
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<p>In 2 Pakistani sibs (patients 14 and 15), born to consanguineous parents with hereditary sensory and autonomic type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), <a href="#5" class="mim-tip-reference" title="Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others. <strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong> Hum. Mutat. 42: 762-776, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>] [<a href="https://doi.org/10.1002/humu.24206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33847017">Neuser et al. (2021)</a> identified homozygosity for a c.4103G-A transition (c.4103G-A, NM_014844.4) in exon 20 of the TECPR2 gene, resulting in a trp1368-to-ter (W1368X) substitution. The mutation was identified by whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" 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 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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">rs1889962674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1889962674;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=rs1889962674" 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=rs1889962674" 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=RCV001249187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001249187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001249187</a>
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<p>In 2 Saudi Arabian sibs (patients 7 and 8), born to consanguineous parents, with hereditary sensory and autonomic type IX with developmental delay (HSAN9; <a href="/entry/615031">615031</a>), <a href="#5" class="mim-tip-reference" title="Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others. <strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong> Hum. Mutat. 42: 762-776, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>] [<a href="https://doi.org/10.1002/humu.24206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33847017">Neuser et al. (2021)</a> identified homozygosity for a c.2998G-T transversion (c.2998G-T, NM_014844.4) in the TECPR2 gene, resulting in an asp1000-to-tyr (D1000Y) substitution at a conserved residue in the C terminus. The mutation was identified by whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" 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="Covone2016" class="mim-anchor"></a>
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Covone, A. E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, M. G., Minetti, C.
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<strong>WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.</strong>
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Clin. Genet. 90: 182-185, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27406698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27406698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27406698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12730" target="_blank">Full Text</a>]
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<a id="Hartz2012" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/20/2012.
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Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B.
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<strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong>
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Europ. J. Paediat. Neurol. 20: 69-79, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26542466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26542466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26542466" 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.ejpn.2015.10.003" target="_blank">Full Text</a>]
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<a id="Nagase1997" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank">Full Text</a>]
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Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others.
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<strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong>
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Hum. Mutat. 42: 762-776, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33847017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33847017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33847017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D.
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<strong>Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.</strong>
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Am. J. Hum. Genet. 91: 1065-1072, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176824[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=23176824" 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.2012.09.015" target="_blank">Full Text</a>]
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Patwari, P. P., Wolfe, L. F., Sharma, G. D., Berry-Kravis, E.
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<strong>TECPR2 mutation-associated respiratory dysregulation: more than central apnea.</strong>
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J. Clin. Sleep Med. 16: 977-982, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32209221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32209221</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32209221[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=32209221" 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/10.5664/jcsm.8434" target="_blank">Full Text</a>]
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<a id="Tamim-Yecheskel2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tamim-Yecheskel, B.-C., Fraiberg, M., Kokabi, K., Freud, S., Shatz, O., Marvaldi, L., Subic, N., Brenner, O., Tsoory, M., Eilam-Altstadter, R., Biton, I., Savidor, A., Dezorella, N., Heimer, G., Behrends, C., Ben-Zeev, B., Elazar, Z.
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<strong>A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.</strong>
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Autophagy 17: 3082-3095, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33218264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33218264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33218264" 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/10.1080/15548627.2020.1852724" 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 : 10/19/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/15/2021<br>Hilary J. Vernon - updated : 09/15/2021<br>Cassandra L. Kniffin - updated : 1/24/2013
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</span>
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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 : 12/20/2012
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</span>
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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 : 10/20/2021
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<span class="mim-text-font">
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carol : 10/19/2021<br>carol : 09/16/2021<br>carol : 09/15/2021<br>carol : 09/15/2021<br>carol : 08/28/2013<br>alopez : 7/8/2013<br>carol : 1/25/2013<br>ckniffin : 1/24/2013<br>carol : 12/20/2012
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<h3>
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<span class="mim-font">
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<strong>*</strong> 615000
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2
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</h3>
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</div>
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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KIAA0329
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TECPR2</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 14q32.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:102,362,941-102,502,477 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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14q32.31
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</span>
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</td>
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<td>
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<span class="mim-font">
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Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay
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</span>
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</td>
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<td>
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<span class="mim-font">
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615031
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1997) cloned TECPR2, which they designated KIAA0329. The deduced 1,411-amino acid protein shares significant similarity with an Aspergillus nidulans SepB, a protein involved in cell division. RT-PCR analysis detected highest TECPR2 expression in kidney, followed by ovary and testis. SDS-PAGE detected in vitro translated TECPR2 at an apparent molecular mass above 100 kD. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (1997) mapped the TECPR2 gene to chromosome 14. </p><p>Hartz (2012) mapped the TECPR2 gene to chromosome 14q32.31 based on an alignment of the TECPR2 sequence (GenBank AB002327) with the genomic sequence (GRCh37).</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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<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>In affected members of 3 Jewish Bukharian families with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; 615031), originally diagnosed with autosomal recessive spastic paraplegia-49 (SPG49), Oz-Levi et al. (2012) identified a homozygous frameshift mutation in the TECPR2 gene (c.3416delT; 615000.0001). The mutation was found by exome sequencing and segregated with the disorder in each family. The phenotype was characterized by delayed motor development, spastic paraparesis, gastroesophageal reflux, and recurrent apneic episodes. The patients also had impaired intellectual development and mild dysmorphic features. Skin fibroblasts from an affected individual showed impaired expression of the autophagocytic proteins SQSTM1 (601530) and MAP1LC3B (609604) in response to various conditions that should have increased the levels of these proteins. The findings suggested that TECPR2 mutations cause impairment of the intracellular autophagy pathway, with attenuation of delivery of targeted proteins to the lysosome. </p><p>In 3 unrelated patients of Ashkenazi or Ashkenazi/Turkish descent with HSAN9, Heimer et al. (2016) identified homozygous or compound heterozygous mutations in the TECPR2 gene (615000.0001-615000.0003). The mutations, which were identified by whole-exome or Sanger sequencing, segregated with disease in each family. </p><p>In a 5-year-old girl with HSAN9, Patwari et al. (2020) identified compound heterozygous mutations the TECPR2 gene (615000.0004; 615000.0005). </p><p>In a 16-year-old Italian girl with HSAN9, Covone et al. (2016) identified compound heterozygosity for 2 missense mutations in the TECPR2 gene (NM_014844.3): c.898G-A (G300R) and c.2708C-T (T903M). The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The patient also had a mutation in the SPG7 gene (602783), which was present in her unaffected father. Functional studies were not performed. </p><p>In 17 patients in 15 families segregating HSAN9 who were recruited through Gene Matcher or personal communication, Neuser et al. (2021) identified homozygous or compound heterozygous mutations in the TECPR2 gene (see, e.g., 615000.0001; 615000.0002; 615000.0006-615000.0007). The mutations were identified by whole-exome sequencing, genetic panel testing, or targeted Sanger sequencing. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tamim-Yecheskel et al. (2021) used CRISPR editing to generate a Tecpr2 knockout mouse. Western blot analysis in mouse embryonic fibroblasts showed absence of Tepcr2 protein expression. The knockout mice displayed sensory and gait defects, including abnormalities in motor coordination and hypersensitivity to thermal stimuli. Brain MRIs of 4- to 5-month-old knockout mice demonstrated signal abnormalities indicating inflammation and degeneration in several brain regions as well as abnormalities in gray and white matter of motor and sensory tracts. Studies in neuronal tissue of the knockout mice showed an overall decrease of neurofilament and a neuroaxonal dystrophy with axonal swelling in the medulla oblongata. In brainstem sections of 9-month-old knockout mice, autophagosomes were seen, and immunoblot analysis of the autophagosomes showed enrichment of MAP1LC3B (609604) and SQSTM1 (601530) but not of the lysosomal marker LAMP2 (309060). Tamim-Yecheskel et al. (2021) concluded that these findings indicate that Tecpr2 plays a role in autophagy and autophagosome consumption. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>7 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">
|
|
<strong>.0001 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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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TECPR2, 1-BP DEL, 3416T
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<br />
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SNP: rs751970061,
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gnomAD: rs751970061,
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ClinVar: RCV000032879, RCV000386910
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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 3 Jewish Bukharian families with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; 615031), who were originally diagnosed with autosomal recessive spastic paraplegia-49 (SPG49), Oz-Levi et al. (2012) identified a homozygous 1-bp deletion (c.3416delT) in exon 16 of the TECPR2 gene, resulting in a frameshift and premature termination (Leu1139ArgfsTer75). The mutation was found by exome sequencing and segregated with the disorder in each family. The mutation was not present in 2,007 non-Bukharian controls, but was found in 4 of 300 Jewish Bukharian control chromosomes, yielding an allele frequency of 0.013 in that ethnic group. In vitro cellular expression assays indicated that the mutant protein was degraded by the proteosome. </p><p>In a patient with HSAN9 (patient 3), Heimer et al. (2016) identified compound heterozygosity for 2 mutations in the TECPR2 gene: c.3416delT (c.3416delT, NM_001172631) and a 1-bp deletion (c.1319delT; 615000.0002) in exon 8, predicted to result in a frameshift and premature termination (Leu440ArgfsTer19). The mutations were identified by Sanger sequencing of the TECPR2 gene, and both parents were shown to be mutation carriers. </p><p>In 2 patients with HSAN9, Neuser et al. (2021) identified homozygosity for the c.3416delT mutation in the TECPR2 gene. They noted that the minor allele frequency of the c.3416delT variant was 2/247,472 in only heterozygous state in the gnomAD 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>.0002 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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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TECPR2, 1-BP DEL, 1319T
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<br />
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SNP: rs750908377,
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gnomAD: rs750908377,
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ClinVar: RCV000414835, RCV001008810, RCV003330660
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Ashkenazi Jewish patient (patient 2) with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; 615031), Heimer et al. (2016) identified homozygosity for 1-bp deletion (c.1319delT, NM_001172631) in exon 8 of the TECPR2 gene, predicted to result in a frameshift and premature termination (Leu440ArgfsTer19). The mutation was not present in the NHLBI Exome Sequencing Project and dbSNP (build 38) databases or in an in-house database of 240 exomes; it was identified in heterozygous state in 3 of 900 exomes in the Hadassah in-house database and in 9 of 2,000 exomes from the Ashkenazi exome project. In another Ashkenazi Jewish patient (patient 1), Heimer et al. (2016) identified c.1319delT in compound heterozygous state with a c.566C-T transition in exon 3, resulting in a thr189-to-ile (T189I; 615000.0003) substitution. In patient 3, of Ashkenazi and Turkish descent, c.1319delT was found in compound heterozygous state with a previously identified c.3416delT mutation (615000.0001). The mutations segregated with the phenotype in all 3 families. </p><p>In 5 patients with HSAN9, Neuser et al. (2021) identified the c.1319del founder mutation in the TECPR2 gene, in homozygosity in 4 and in compound heterozygosity in 1. They noted that the minor allele frequency of the c.1319del variant was 37/275,698 in only heterozygous state in the gnomAD 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 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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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TECPR2, THR189ILE
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<br />
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SNP: rs1888974156,
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ClinVar: RCV001250479
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<span class="mim-text-font">
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<p>For discussion of the c.566C-T transition (c.566C-T, NM_001172631) in exon 3 of the TECPR2 gene, resulting in a thr189-to-ile (T189I) substitution, that was found in compound heterozygous state in a patient with hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9; 615031) by Heimer et al. (2016), see 615000.0002. </p>
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<h4>
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<span class="mim-font">
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<strong>.0004 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</strong>
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</span>
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<span class="mim-text-font">
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TECPR2, 1-BP DEL, 774A
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<br />
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SNP: rs772483312,
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gnomAD: rs772483312,
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ClinVar: RCV000520741, RCV001250489
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<p>In a patient with hereditary sensory and autonomic type IX with developmental delay (HSAN9; 615031), Patwari et al. (2020) identified compound heterozygous mutations in the TECPR2 gene: a 1-bp deletion (c.774delA), predicted to result in a frameshift and premature termination (Asp259MetfsTer44) and a 5-bp deletion (c.1028_1032delAAGGA; 615000.0005), predicted to result in a frameshift and premature termination (Lys343ArgfsTer2). The mutations were identified by whole-exome sequencing. Functional studies were not performed. </p>
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<span class="mim-font">
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<strong>.0005 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TECPR2, 5-BP DEL, 1028AAGGA
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<br />
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SNP: rs1359602238,
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gnomAD: rs1359602238,
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ClinVar: RCV000523486, RCV001250490
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<span class="mim-text-font">
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<p>For discussion of the 5-bp deletion (c.1028_1032delAAGGA) in the TECPR2 gene, predicted to result in a frameshift and premature termination (Lys343ArgfsTer2), that was found in compound heterozygous state in a patient with hereditary sensory and autonomic type IX with developmental delay (HSAN9; 615031) by Patwari et al. (2020), see 615000.0004. </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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<h4>
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<span class="mim-font">
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<strong>.0006 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TECPR2, TRP1368TER
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<br />
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SNP: rs1891340555,
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ClinVar: RCV001290270
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 2 Pakistani sibs (patients 14 and 15), born to consanguineous parents with hereditary sensory and autonomic type IX with developmental delay (HSAN9; 615031), Neuser et al. (2021) identified homozygosity for a c.4103G-A transition (c.4103G-A, NM_014844.4) in exon 20 of the TECPR2 gene, resulting in a trp1368-to-ter (W1368X) substitution. The mutation was identified by whole-exome sequencing. Functional studies were not performed. </p>
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</span>
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</div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY</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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TECPR2, ASP1000TYR
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<br />
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SNP: rs1889962674,
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ClinVar: RCV001249187
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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 Saudi Arabian sibs (patients 7 and 8), born to consanguineous parents, with hereditary sensory and autonomic type IX with developmental delay (HSAN9; 615031), Neuser et al. (2021) identified homozygosity for a c.2998G-T transversion (c.2998G-T, NM_014844.4) in the TECPR2 gene, resulting in an asp1000-to-tyr (D1000Y) substitution at a conserved residue in the C terminus. The mutation was identified by whole-exome sequencing. Functional studies were not performed. </p>
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</span>
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</div>
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</div>
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</div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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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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Covone, A. E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, M. G., Minetti, C.
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<strong>WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.</strong>
|
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Clin. Genet. 90: 182-185, 2016.
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[PubMed: 27406698]
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[Full Text: https://doi.org/10.1111/cge.12730]
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/20/2012.
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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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Heimer, G., Oz-Levi, D., Eyal, E., Edvardson, S., Nissenkorn, A., Ruzzo, E. K., Szeinberg, A., Maayan, C., Mai-Zahav, M., Efrati, O., Pras, E., Reznik-Wolf, H., Lancet, D., Goldstein, D. B., Anikster, Y., Shalev, S. A., Elpeleg, O., Ben Zeev, B.
|
|
<strong>TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.</strong>
|
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Europ. J. Paediat. Neurol. 20: 69-79, 2016.
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[PubMed: 26542466]
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[Full Text: https://doi.org/10.1016/j.ejpn.2015.10.003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
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DNA Res. 4: 141-150, 1997.
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[PubMed: 9205841]
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[Full Text: https://doi.org/10.1093/dnares/4.2.141]
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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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Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., and 38 others.
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<strong>Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.</strong>
|
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Hum. Mutat. 42: 762-776, 2021.
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[PubMed: 33847017]
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[Full Text: https://doi.org/10.1002/humu.24206]
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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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Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D.
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<strong>Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.</strong>
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Am. J. Hum. Genet. 91: 1065-1072, 2012.
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[PubMed: 23176824]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.09.015]
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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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Patwari, P. P., Wolfe, L. F., Sharma, G. D., Berry-Kravis, E.
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<strong>TECPR2 mutation-associated respiratory dysregulation: more than central apnea.</strong>
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J. Clin. Sleep Med. 16: 977-982, 2020.
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[PubMed: 32209221]
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[Full Text: https://doi.org/10.5664/jcsm.8434]
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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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Tamim-Yecheskel, B.-C., Fraiberg, M., Kokabi, K., Freud, S., Shatz, O., Marvaldi, L., Subic, N., Brenner, O., Tsoory, M., Eilam-Altstadter, R., Biton, I., Savidor, A., Dezorella, N., Heimer, G., Behrends, C., Ben-Zeev, B., Elazar, Z.
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<strong>A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.</strong>
|
|
Autophagy 17: 3082-3095, 2021.
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[PubMed: 33218264]
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[Full Text: https://doi.org/10.1080/15548627.2020.1852724]
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Hilary J. Vernon - updated : 10/19/2021<br>Cassandra L. Kniffin - updated : 09/15/2021<br>Hilary J. Vernon - updated : 09/15/2021<br>Cassandra L. Kniffin - updated : 1/24/2013
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carol : 10/20/2021<br>carol : 10/19/2021<br>carol : 09/16/2021<br>carol : 09/15/2021<br>carol : 09/15/2021<br>carol : 08/28/2013<br>alopez : 7/8/2013<br>carol : 1/25/2013<br>ckniffin : 1/24/2013<br>carol : 12/20/2012
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