3271 lines
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Entry
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- *607056 - INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2
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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">*607056</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607056">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 panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000081148;t=ENST00000193391" 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=50939" 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=607056" 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=ENSG00000081148;t=ENST00000193391" 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_016247" 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_016247" 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=607056" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06135&isoform_id=06135_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/IMPG2" 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/6318680,6467403,12247455,14486651,57242793,119600209,296439325,326205377" 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/Q9BZV3" 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=50939" 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=ENSG00000081148;t=ENST00000193391" 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=IMPG2" 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=IMPG2" 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+50939" 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/IMPG2" 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:50939" 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/50939" 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=chr3&hgg_gene=ENST00000193391.8&hgg_start=101222546&hgg_end=101320575&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/genes/HGNC:18362" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607056[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=607056[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000081148" 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=IMPG2" 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=IMPG2" 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=IMPG2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/IMPG2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IMPG2&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/PA29866" 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:18362" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:3044955" 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/IMPG2#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:3044955" 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/50939/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/OMIA002289/" 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=50939" 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-081031-56" 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=IMPG2&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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607056
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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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INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2
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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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SPACRCAN<br />
|
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IPM200
|
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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=IMPG2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IMPG2</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/3/507?start=-3&limit=10&highlight=507">3q12.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:101222546-101320575&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'})">3:101,222,546-101,320,575</a> </span>
|
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</em>
|
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</strong>
|
|
<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">
|
|
<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>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616152,613581" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
|
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<th>
|
|
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="2">
|
|
<span class="mim-font">
|
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<a href="/geneMap/3/507?start=-3&limit=10&highlight=507">
|
|
3q12.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Macular dystrophy, vitelliform, 5
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/616152"> 616152 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 56
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/613581"> 613581 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<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">
|
|
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607056" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607056" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<p>Interphotoreceptor matrix proteoglycan-2 is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye (summary by <a href="#1" class="mim-tip-reference" title="Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G. <strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong> J. Biol. Chem. 275: 6945-6955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10702256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10702256</a>] [<a href="https://doi.org/10.1074/jbc.275.10.6945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10702256">Acharya et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10702256" 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="#4" class="mim-tip-reference" title="Kuehn, M. H., Hageman, G. S. <strong>Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.</strong> Molec. Cell Biol. Res. Commun. 2: 103-110, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542133</a>] [<a href="https://doi.org/10.1006/mcbr.1999.0161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10542133">Kuehn and Hageman (1999)</a> cloned human IMPG2, encoding a novel chondroitin sulfate proteoglycan, which they designated IPM200, from the retinal interphotoreceptor matrix. The deduced 1,241-amino acid protein has a calculated molecular mass of 138.5 kD. Northern blot analysis detected a single 6.2-kb transcript in human retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10542133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G. <strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong> J. Biol. Chem. 275: 6945-6955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10702256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10702256</a>] [<a href="https://doi.org/10.1074/jbc.275.10.6945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10702256">Acharya et al. (2000)</a> also cloned IMPG2, which they called SPACRCAN, from a human retina cDNA library. The deduced 1,160-amino acid protein contains a large central mucin domain, 3 consensus sites for glycosaminoglycan attachment, 2 epidermal growth factor-like repeats, a putative hyaluronan-binding motif, and a potential transmembrane domain near the C terminus. By Northern blot analysis, <a href="#1" class="mim-tip-reference" title="Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G. <strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong> J. Biol. Chem. 275: 6945-6955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10702256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10702256</a>] [<a href="https://doi.org/10.1074/jbc.275.10.6945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10702256">Acharya et al. (2000)</a> detected a predominant, approximately 9-kb transcript and a more diffuse 4.4-kb transcript, with restricted expression in the retina and pineal gland. By in situ hybridization, they localized IMPG2 within the interphotoreceptor matrix, surrounding both rods and cones. By Northern blot analysis and RT-PCR, <a href="#5" class="mim-tip-reference" title="Kuehn, M. H., Stone, E. M., Hageman, G. S. <strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong> Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726612</a>]" pmid="11726612">Kuehn et al. (2001)</a> showed that IMPG2 is processed in the human retina into multiple alternatively sized transcripts that may represent splice variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10702256+11726612" 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="#5" class="mim-tip-reference" title="Kuehn, M. H., Stone, E. M., Hageman, G. S. <strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong> Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726612</a>]" pmid="11726612">Kuehn et al. (2001)</a> determined that the IMPG2 gene contains 19 exons and spans at least 31.0 kb. Based on an analysis of the overall relationship of human IMPG2 to human IMPG1 (<a href="/entry/602870">602870</a>), <a href="#5" class="mim-tip-reference" title="Kuehn, M. H., Stone, E. M., Hageman, G. S. <strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong> Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726612</a>]" pmid="11726612">Kuehn et al. (2001)</a> suggested that the genes evolved from a common ancestral gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726612" 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 and FISH, <a href="#4" class="mim-tip-reference" title="Kuehn, M. H., Hageman, G. S. <strong>Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.</strong> Molec. Cell Biol. Res. Commun. 2: 103-110, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542133</a>] [<a href="https://doi.org/10.1006/mcbr.1999.0161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10542133">Kuehn and Hageman (1999)</a> mapped the IMPG2 gene to chromosome 3q12.2-q12.3. By the same methods, <a href="#1" class="mim-tip-reference" title="Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G. <strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong> J. Biol. Chem. 275: 6945-6955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10702256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10702256</a>] [<a href="https://doi.org/10.1074/jbc.275.10.6945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10702256">Acharya et al. (2000)</a> mapped the IMPG2 gene to chromosome 3q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10542133+10702256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> analyzed the candidate gene IMPG2 in 12 families segregating autosomal recessive retinal disease mapping to chromosome 3q12 and identified homozygous mutations in 7 of them (see, e.g., <a href="#0001">607056.0001</a>-<a href="#0005">607056.0005</a>). In 5 families with a truncating mutation and in 1 with a 1.8-kb intragenic deletion, affected individuals were diagnosed with retinitis pigmentosa (RP56; <a href="/entry/613581">613581</a>), whereas the 1 patient with a missense mutation (F124L; <a href="#0005">607056.0005</a>) had mild maculopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Vitelliform Macular Dystrophy 5</em></strong></p><p>
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In a father and son with vitelliform macular dystrophy (VMD5; <a href="/entry/616152">616152</a>), <a href="#6" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> identified heterozygosity for a missense mutation in the IMPG2 gene (C1077F; <a href="#0006">607056.0006</a>). <a href="#6" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> noted that homozygosity for a missense mutation in IMPG2 (F124L; <a href="#0005">607056.0005</a>) had previously been identified by <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> in a patient with mild maculopathy, which <a href="#6" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> designated as representing 'a case of autosomal recessive macular vitelliform dystrophy.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20673862+25085631" 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 cohort of 106 unrelated patients with VMD who were negative for mutation in the BEST1 (<a href="/entry/607854">607854</a>) and PRPH2 (<a href="/entry/179605">179605</a>) genes, <a href="#3" class="mim-tip-reference" title="Brandl, C., Schulz, H. L., Issa, P. C., Birtel, J., Bergholz, R., Lange, C., Dahlke, C., Zobor, D., Weber, B. H. F., Stohr, H. <strong>Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions.</strong> Genes (Basel) 8: 170, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28644393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28644393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28644393[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/10.3390/genes8070170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28644393">Brandl et al. (2017)</a> screened the IMPG1 and IMPG2 genes and identified 8 probands with heterozygous mutations in IMPG2 (see, e.g., <a href="#0006">607056.0006</a>-<a href="#0007">607056.0007</a>). The authors also identified patients with mutations in IMPG1 (see VMD4, <a href="/entry/616151">616151</a>) and noted remarkable similarity in the clinical appearance of IMPG1 and IMPG2 mutation carriers, although symptoms tended to be more severe in those with IMPG1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28644393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Kuehn, M. H., Stone, E. M., Hageman, G. S. <strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong> Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726612</a>]" pmid="11726612">Kuehn et al. (2001)</a> analyzed the coding regions of the IMPG2 gene in 224 probands with various retinal diseases, but found no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/607056" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607056[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 RETINITIS PIGMENTOSA 56</strong>
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IMPG2, SER212TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606874;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=rs267606874" 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=rs267606874" 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=RCV000003724 OR RCV001003056" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003724, RCV001003056" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003724...</a>
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<p>In 3 sisters from a consanguineous Iraqi Jewish family (family MOL0764) with retinitis pigmentosa (RP56; <a href="/entry/613581">613581</a>), <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> identified homozygosity for a 635C-G transversion in exon 6 of the IMPG2 gene, resulting in a ser212-to-ter (S212X) substitution. The mutation was not detected in 47 additional RP patients of Oriental Jewish origin, primarily from Iraq, Iran, and Afghanistan, or in 98 Israeli and Palestinian RP patients of other origins; however, it was found in 1 of 104 controls of Oriental Jewish ancestry. The 3 sisters were diagnosed with RP and myopia in childhood, and in their sixth decade had advanced RP with very low visual acuity, ranging from counting fingers to light perception only, with atropic macular changes and severely constricted visual fields. Full-field electroretinogram (ERG) responses were extinguished in all 3 sibs. All 3 also had posterior subcapsular cataracts; 1 sister also had nuclear cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673862" 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>.0002 RETINITIS PIGMENTOSA 56</strong>
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IMPG2, 1,850-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003725 OR RCV004814819" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003725, RCV004814819" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003725...</a>
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<p>In 3 sibs from a Dutch family (family W01-299) with retinitis pigmentosa (RP56; <a href="/entry/613581">613581</a>), <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> identified homozygosity for a 1,850-bp deletion (c.888-1554_908+274del) that removes exon 9 of the IMPG2 gene, resulting in absence of 7 amino acids in a conserved SEA domain. The deletion was not found in 270 Dutch controls or in more than 700 probands of European origin with isolated or autosomal recessive RP. Transient transfection of COS-1 cells showed that a construct expressing the wildtype SEA domain was properly targeted to the plasma membrane, whereas the mutant lacking the 7 amino acids appeared to be retained in the endoplasmic reticulum. The 3 affected sibs were diagnosed with RP before 15 years of age, and visual acuity ranged from 20/32 to 20/125 at the time of presentation. ERG responses in 2 of the sibs showed a rod-cone pattern and deteriorated over time. Posterior subcapsular cataracts led to cataract extraction in all 3 patients around the age of 30 years. All 3 displayed bull's-eye maculopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 RETINITIS PIGMENTOSA 56</strong>
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IMPG2, ARG906TER
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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> rs267606876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606876;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/rs267606876?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=rs267606876" 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=rs267606876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003726 OR RCV001207781 OR RCV003887851" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003726, RCV001207781, RCV003887851" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003726...</a>
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<p>In 2 Dutch brothers from a consanguineous Dutch family (family W08-1378) with retinitis pigmentosa (RP56; <a href="/entry/613581">613581</a>), <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> identified homozygosity for a 2716C-T transition in the IMPG2 gene, resulting in an arg906-to-ter (R906X) substitution. The mutation, which was not found in more than 100 ethnically matched controls, was also detected in heterozygosity in a sporadic RP Dutch patient in whom another mutation in the IMPG2 gene was not identified on the second allele. The brothers presented with early-onset night blindness and diminished color vision and were diagnosed with cone-rod dystrophy in their teens. At age 30, they both displayed moderate myopia, waxy pallor of the optic disc, narrow vessels, peripheral bone spicules, and an undetectable ERG response. The proband had a relatively intact macula with a visual acuity of 20/80 in both eyes and only loss of sensitivity in the central visual field. His younger brother, however, had patches of retinal pigment epithelium atrophy in the macula with visual acuity of 20/80 in the right eye but was only able to count fingers with the left eye; visual field testing revealed a central scotoma in both eyes. At ages 39 and 36 years, both brothers had mild cortical cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<strong>.0004 RETINITIS PIGMENTOSA 56</strong>
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IMPG2, ARG964TER
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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> rs267606875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606875;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/rs267606875?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=rs267606875" 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=rs267606875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003727 OR RCV000787843 OR RCV001053603 OR RCV003887852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003727, RCV000787843, RCV001053603, RCV003887852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003727...</a>
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<p>In a 68-year-old Italian woman (family NAP1) with retinitis pigmentosa (RP56; <a href="/entry/613581">613581</a>), born of second-cousin parents, <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> identified homozygosity for a 2890C-T transition in the IMPG2 gene, resulting in an arg964-to-ter (R964X) substitution. The mutation was not found in more than 100 ethnically matched controls. The patient was diagnosed with RP at age 30 years; examination at age 68 revealed advanced RP with atrophic macular changes, very low visual acuity (detection of hand motion bilaterally), exotropia of the right eye, nystagmus, posterior subcapsular cataracts, and extinguished ERG responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MACULAR DYSTROPHY, VITELLIFORM, 5</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> rs201893545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201893545;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/rs201893545?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=rs201893545" 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=rs201893545" 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=RCV000003728 OR RCV001003057 OR RCV001053107 OR RCV004786236 OR RCV004814820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003728, RCV001003057, RCV001053107, RCV004786236, RCV004814820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003728...</a>
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<p>In an Israeli Christian Arab woman (family MOL0732), born of first-cousin parents, who was diagnosed with mild maculopathy (VMD5; <a href="/entry/616152">616152</a>) at 63 years of age, <a href="#2" class="mim-tip-reference" title="Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others. <strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong> Am. J. Hum. Genet. 87: 199-208, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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.2010.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673862">Bandah-Rozenfeld et al. (2010)</a> identified homozygosity for a 370T-C transition in the IMPG2 gene, resulting in a phe124-to-leu (F124L) substitution at a highly conserved residue. Full-field ERG responses were within normal limits, and color vision was normal. Optical coherence tomography revealed elevation of the photoreceptor layer in the foveal region. She had mild nuclear sclerosis, and visual field testing revealed a relative central scotoma in the right eye. <a href="#6" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> designated the 'mild maculopathy' in this patient as 'a case of autosomal recessive vitelliform macular dystrophy.' No heterozygous carriers were examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20673862+25085631" 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> rs713993049 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs713993049;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/rs713993049?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=rs713993049" 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=rs713993049" 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=RCV000149552 OR RCV004815211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149552, RCV004815211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149552...</a>
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<p>In a father and son with vitelliform macular dystrophy (VMD5; <a href="/entry/616152">616152</a>), <a href="#6" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> identified heterozygosity for a c.3230G-T transversion in the IMPG2 gene, resulting in a cys1077-to-phe (C1077F) substitution in the second EGF-like domain. The father's affected sister was also heterozygous for the mutation, which was not found in an unaffected daughter, in 57 ophthalmologically unaffected and ethnically matched controls with no personal or family history of macular degeneration or retinal dystrophy, or in public SNP databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25085631" 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 70-year-old woman (family 8-553) who was diagnosed at age 64 with VMD, <a href="#3" class="mim-tip-reference" title="Brandl, C., Schulz, H. L., Issa, P. C., Birtel, J., Bergholz, R., Lange, C., Dahlke, C., Zobor, D., Weber, B. H. F., Stohr, H. <strong>Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions.</strong> Genes (Basel) 8: 170, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28644393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28644393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28644393[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/10.3390/genes8070170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28644393">Brandl et al. (2017)</a> identified heterozygosity for the C1077F mutation in the IMPG2 gene. Her 31-year-old son, who reported problems with reading, had visual acuity of 20/30 in the right eye and a dome-shaped foveal detachment with material above the retinal pigment epithelium (RPE) and defects at the photoreceptor inner/outer segment junction (ellipsoid zone) on spectral-domain optical coherence tomography (SD-OCT). His left eye had 20/20 visual acuity but SD-OCT revealed mild subfoveal accumulation of hyperreflective material without RPE or photoreceptor abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28644393" 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">rs1706811719 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1706811719;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=rs1706811719" 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=rs1706811719" 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=RCV001075010 OR RCV001644912" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001075010, RCV001644912" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001075010...</a>
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<p>In a 54-year-old man (family 9-399) who was diagnosed at age 47 with vitelliform macular dystrophy (VMD5; <a href="/entry/616152">616152</a>), <a href="#3" class="mim-tip-reference" title="Brandl, C., Schulz, H. L., Issa, P. C., Birtel, J., Bergholz, R., Lange, C., Dahlke, C., Zobor, D., Weber, B. H. F., Stohr, H. <strong>Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions.</strong> Genes (Basel) 8: 170, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28644393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28644393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28644393[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/10.3390/genes8070170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28644393">Brandl et al. (2017)</a> identified heterozygosity for a c.727G-C transversion in exon 7 of the IMPG2 gene, resulting in an ala243-to-pro (A243P) substitution. The variant was not found in the ExAC database. His 44-year-old asymptomatic sister, who was also heterozygous for the A243P variant, was found to have slightly reduced visual acuity of 20/25 in the left eye and bilateral foveal lesions on spectral-domain optical coherence tomography, more severe on the left than the right. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28644393" 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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Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G.
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<strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong>
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J. Biol. Chem. 275: 6945-6955, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10702256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10702256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10702256" 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/10.1074/jbc.275.10.6945" target="_blank">Full Text</a>]
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Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others.
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<strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong>
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Am. J. Hum. Genet. 87: 199-208, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673862[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=20673862" 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.2010.07.004" target="_blank">Full Text</a>]
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Brandl, C., Schulz, H. L., Issa, P. C., Birtel, J., Bergholz, R., Lange, C., Dahlke, C., Zobor, D., Weber, B. H. F., Stohr, H.
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<strong>Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions.</strong>
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Genes (Basel) 8: 170, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28644393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28644393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28644393[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=28644393" 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/10.3390/genes8070170" target="_blank">Full Text</a>]
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<strong>Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.</strong>
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Molec. Cell Biol. Res. Commun. 2: 103-110, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10542133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10542133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10542133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mcbr.1999.0161" target="_blank">Full Text</a>]
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Kuehn, M. H., Stone, E. M., Hageman, G. S.
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<strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong>
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Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Meunier2014" class="mim-anchor"></a>
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<p class="mim-text-font">
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Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P.
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<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
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Ophthalmology 121: 2406-2414, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25085631" 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.ophtha.2014.06.028" 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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Marla J. F. O'Neill - updated : 09/10/2021
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/30/2014<br>Marla J. F. O'Neill - updated : 10/5/2010<br>Carol A. Bocchini - updated : 6/20/2002
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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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Jane Kelly : 6/20/2002
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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 : 09/11/2021
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carol : 09/10/2021<br>carol : 10/19/2017<br>carol : 12/30/2014<br>carol : 12/30/2014<br>carol : 10/3/2011<br>wwang : 10/7/2010<br>terry : 10/5/2010<br>carol : 7/9/2002<br>terry : 6/21/2002<br>carol : 6/21/2002<br>carol : 6/20/2002<br>carol : 6/20/2002
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607056
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<h3>
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INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2
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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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SPACRCAN<br />
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IPM200
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IMPG2</em></strong>
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<strong>
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<em>
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Cytogenetic location: 3q12.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:101,222,546-101,320,575 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<span class="mim-font">
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3q12.3
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<span class="mim-font">
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Macular dystrophy, vitelliform, 5
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<span class="mim-font">
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616152
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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Retinitis pigmentosa 56
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<span class="mim-font">
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613581
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>Interphotoreceptor matrix proteoglycan-2 is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye (summary by Acharya et al., 2000). </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>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>Kuehn and Hageman (1999) cloned human IMPG2, encoding a novel chondroitin sulfate proteoglycan, which they designated IPM200, from the retinal interphotoreceptor matrix. The deduced 1,241-amino acid protein has a calculated molecular mass of 138.5 kD. Northern blot analysis detected a single 6.2-kb transcript in human retina. </p><p>Acharya et al. (2000) also cloned IMPG2, which they called SPACRCAN, from a human retina cDNA library. The deduced 1,160-amino acid protein contains a large central mucin domain, 3 consensus sites for glycosaminoglycan attachment, 2 epidermal growth factor-like repeats, a putative hyaluronan-binding motif, and a potential transmembrane domain near the C terminus. By Northern blot analysis, Acharya et al. (2000) detected a predominant, approximately 9-kb transcript and a more diffuse 4.4-kb transcript, with restricted expression in the retina and pineal gland. By in situ hybridization, they localized IMPG2 within the interphotoreceptor matrix, surrounding both rods and cones. By Northern blot analysis and RT-PCR, Kuehn et al. (2001) showed that IMPG2 is processed in the human retina into multiple alternatively sized transcripts that may represent splice variants. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Kuehn et al. (2001) determined that the IMPG2 gene contains 19 exons and spans at least 31.0 kb. Based on an analysis of the overall relationship of human IMPG2 to human IMPG1 (602870), Kuehn et al. (2001) suggested that the genes evolved from a common ancestral gene. </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>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 and FISH, Kuehn and Hageman (1999) mapped the IMPG2 gene to chromosome 3q12.2-q12.3. By the same methods, Acharya et al. (2000) mapped the IMPG2 gene to chromosome 3q11.2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Retinitis Pigmentosa 56</em></strong></p><p>
|
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Bandah-Rozenfeld et al. (2010) analyzed the candidate gene IMPG2 in 12 families segregating autosomal recessive retinal disease mapping to chromosome 3q12 and identified homozygous mutations in 7 of them (see, e.g., 607056.0001-607056.0005). In 5 families with a truncating mutation and in 1 with a 1.8-kb intragenic deletion, affected individuals were diagnosed with retinitis pigmentosa (RP56; 613581), whereas the 1 patient with a missense mutation (F124L; 607056.0005) had mild maculopathy. </p><p><strong><em>Vitelliform Macular Dystrophy 5</em></strong></p><p>
|
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In a father and son with vitelliform macular dystrophy (VMD5; 616152), Meunier et al. (2014) identified heterozygosity for a missense mutation in the IMPG2 gene (C1077F; 607056.0006). Meunier et al. (2014) noted that homozygosity for a missense mutation in IMPG2 (F124L; 607056.0005) had previously been identified by Bandah-Rozenfeld et al. (2010) in a patient with mild maculopathy, which Meunier et al. (2014) designated as representing 'a case of autosomal recessive macular vitelliform dystrophy.' </p><p>In a cohort of 106 unrelated patients with VMD who were negative for mutation in the BEST1 (607854) and PRPH2 (179605) genes, Brandl et al. (2017) screened the IMPG1 and IMPG2 genes and identified 8 probands with heterozygous mutations in IMPG2 (see, e.g., 607056.0006-607056.0007). The authors also identified patients with mutations in IMPG1 (see VMD4, 616151) and noted remarkable similarity in the clinical appearance of IMPG1 and IMPG2 mutation carriers, although symptoms tended to be more severe in those with IMPG1 mutations. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
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Kuehn et al. (2001) analyzed the coding regions of the IMPG2 gene in 224 probands with various retinal diseases, but found no mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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">
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<strong>.0001 RETINITIS PIGMENTOSA 56</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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IMPG2, SER212TER
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<br />
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SNP: rs267606874,
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ClinVar: RCV000003724, RCV001003056
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sisters from a consanguineous Iraqi Jewish family (family MOL0764) with retinitis pigmentosa (RP56; 613581), Bandah-Rozenfeld et al. (2010) identified homozygosity for a 635C-G transversion in exon 6 of the IMPG2 gene, resulting in a ser212-to-ter (S212X) substitution. The mutation was not detected in 47 additional RP patients of Oriental Jewish origin, primarily from Iraq, Iran, and Afghanistan, or in 98 Israeli and Palestinian RP patients of other origins; however, it was found in 1 of 104 controls of Oriental Jewish ancestry. The 3 sisters were diagnosed with RP and myopia in childhood, and in their sixth decade had advanced RP with very low visual acuity, ranging from counting fingers to light perception only, with atropic macular changes and severely constricted visual fields. Full-field electroretinogram (ERG) responses were extinguished in all 3 sibs. All 3 also had posterior subcapsular cataracts; 1 sister also had nuclear cataract. </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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<h4>
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<span class="mim-font">
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<strong>.0002 RETINITIS PIGMENTOSA 56</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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IMPG2, 1,850-BP DEL
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<br />
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ClinVar: RCV000003725, RCV004814819
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs from a Dutch family (family W01-299) with retinitis pigmentosa (RP56; 613581), Bandah-Rozenfeld et al. (2010) identified homozygosity for a 1,850-bp deletion (c.888-1554_908+274del) that removes exon 9 of the IMPG2 gene, resulting in absence of 7 amino acids in a conserved SEA domain. The deletion was not found in 270 Dutch controls or in more than 700 probands of European origin with isolated or autosomal recessive RP. Transient transfection of COS-1 cells showed that a construct expressing the wildtype SEA domain was properly targeted to the plasma membrane, whereas the mutant lacking the 7 amino acids appeared to be retained in the endoplasmic reticulum. The 3 affected sibs were diagnosed with RP before 15 years of age, and visual acuity ranged from 20/32 to 20/125 at the time of presentation. ERG responses in 2 of the sibs showed a rod-cone pattern and deteriorated over time. Posterior subcapsular cataracts led to cataract extraction in all 3 patients around the age of 30 years. All 3 displayed bull's-eye maculopathy. </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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<h4>
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<span class="mim-font">
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<strong>.0003 RETINITIS PIGMENTOSA 56</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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IMPG2, ARG906TER
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<br />
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SNP: rs267606876,
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gnomAD: rs267606876,
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ClinVar: RCV000003726, RCV001207781, RCV003887851
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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 Dutch brothers from a consanguineous Dutch family (family W08-1378) with retinitis pigmentosa (RP56; 613581), Bandah-Rozenfeld et al. (2010) identified homozygosity for a 2716C-T transition in the IMPG2 gene, resulting in an arg906-to-ter (R906X) substitution. The mutation, which was not found in more than 100 ethnically matched controls, was also detected in heterozygosity in a sporadic RP Dutch patient in whom another mutation in the IMPG2 gene was not identified on the second allele. The brothers presented with early-onset night blindness and diminished color vision and were diagnosed with cone-rod dystrophy in their teens. At age 30, they both displayed moderate myopia, waxy pallor of the optic disc, narrow vessels, peripheral bone spicules, and an undetectable ERG response. The proband had a relatively intact macula with a visual acuity of 20/80 in both eyes and only loss of sensitivity in the central visual field. His younger brother, however, had patches of retinal pigment epithelium atrophy in the macula with visual acuity of 20/80 in the right eye but was only able to count fingers with the left eye; visual field testing revealed a central scotoma in both eyes. At ages 39 and 36 years, both brothers had mild cortical cataract. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0004 RETINITIS PIGMENTOSA 56</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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IMPG2, ARG964TER
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<br />
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SNP: rs267606875,
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gnomAD: rs267606875,
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ClinVar: RCV000003727, RCV000787843, RCV001053603, RCV003887852
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</span>
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<span class="mim-text-font">
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<p>In a 68-year-old Italian woman (family NAP1) with retinitis pigmentosa (RP56; 613581), born of second-cousin parents, Bandah-Rozenfeld et al. (2010) identified homozygosity for a 2890C-T transition in the IMPG2 gene, resulting in an arg964-to-ter (R964X) substitution. The mutation was not found in more than 100 ethnically matched controls. The patient was diagnosed with RP at age 30 years; examination at age 68 revealed advanced RP with atrophic macular changes, very low visual acuity (detection of hand motion bilaterally), exotropia of the right eye, nystagmus, posterior subcapsular cataracts, and extinguished ERG responses. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 MACULAR DYSTROPHY, VITELLIFORM, 5</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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IMPG2, PHE124LEU
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<br />
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SNP: rs201893545,
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gnomAD: rs201893545,
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ClinVar: RCV000003728, RCV001003057, RCV001053107, RCV004786236, RCV004814820
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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 an Israeli Christian Arab woman (family MOL0732), born of first-cousin parents, who was diagnosed with mild maculopathy (VMD5; 616152) at 63 years of age, Bandah-Rozenfeld et al. (2010) identified homozygosity for a 370T-C transition in the IMPG2 gene, resulting in a phe124-to-leu (F124L) substitution at a highly conserved residue. Full-field ERG responses were within normal limits, and color vision was normal. Optical coherence tomography revealed elevation of the photoreceptor layer in the foveal region. She had mild nuclear sclerosis, and visual field testing revealed a relative central scotoma in the right eye. Meunier et al. (2014) designated the 'mild maculopathy' in this patient as 'a case of autosomal recessive vitelliform macular dystrophy.' No heterozygous carriers were examined. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 MACULAR DYSTROPHY, VITELLIFORM, 5</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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IMPG2, CYS1077PHE
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<br />
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SNP: rs713993049,
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gnomAD: rs713993049,
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ClinVar: RCV000149552, RCV004815211
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a father and son with vitelliform macular dystrophy (VMD5; 616152), Meunier et al. (2014) identified heterozygosity for a c.3230G-T transversion in the IMPG2 gene, resulting in a cys1077-to-phe (C1077F) substitution in the second EGF-like domain. The father's affected sister was also heterozygous for the mutation, which was not found in an unaffected daughter, in 57 ophthalmologically unaffected and ethnically matched controls with no personal or family history of macular degeneration or retinal dystrophy, or in public SNP databases. </p><p>In a 70-year-old woman (family 8-553) who was diagnosed at age 64 with VMD, Brandl et al. (2017) identified heterozygosity for the C1077F mutation in the IMPG2 gene. Her 31-year-old son, who reported problems with reading, had visual acuity of 20/30 in the right eye and a dome-shaped foveal detachment with material above the retinal pigment epithelium (RPE) and defects at the photoreceptor inner/outer segment junction (ellipsoid zone) on spectral-domain optical coherence tomography (SD-OCT). His left eye had 20/20 visual acuity but SD-OCT revealed mild subfoveal accumulation of hyperreflective material without RPE or photoreceptor abnormalities. </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>.0007 MACULAR DYSTROPHY, VITELLIFORM, 5</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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IMPG2, ALA243PRO
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<br />
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SNP: rs1706811719,
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ClinVar: RCV001075010, RCV001644912
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 54-year-old man (family 9-399) who was diagnosed at age 47 with vitelliform macular dystrophy (VMD5; 616152), Brandl et al. (2017) identified heterozygosity for a c.727G-C transversion in exon 7 of the IMPG2 gene, resulting in an ala243-to-pro (A243P) substitution. The variant was not found in the ExAC database. His 44-year-old asymptomatic sister, who was also heterozygous for the A243P variant, was found to have slightly reduced visual acuity of 20/25 in the left eye and bilateral foveal lesions on spectral-domain optical coherence tomography, more severe on the left than the right. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Acharya, S., Foletta, V. C., Lee, J. W., Rayborn, M. E., Rodriguez, I. R., Young, W. S., III, Hollyfield, J. G.
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<strong>SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.</strong>
|
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J. Biol. Chem. 275: 6945-6955, 2000.
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[PubMed: 10702256]
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[Full Text: https://doi.org/10.1074/jbc.275.10.6945]
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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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Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., and 9 others.
|
|
<strong>Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.</strong>
|
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Am. J. Hum. Genet. 87: 199-208, 2010.
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[PubMed: 20673862]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.004]
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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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Brandl, C., Schulz, H. L., Issa, P. C., Birtel, J., Bergholz, R., Lange, C., Dahlke, C., Zobor, D., Weber, B. H. F., Stohr, H.
|
|
<strong>Mutations in the genes for interphotoreceptor matrix proteoglycans, IMPG1 and IMPG2, in patients with vitelliform macular lesions.</strong>
|
|
Genes (Basel) 8: 170, 2017.
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[PubMed: 28644393]
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[Full Text: https://doi.org/10.3390/genes8070170]
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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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Kuehn, M. H., Hageman, G. S.
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<strong>Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.</strong>
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Molec. Cell Biol. Res. Commun. 2: 103-110, 1999.
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[PubMed: 10542133]
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[Full Text: https://doi.org/10.1006/mcbr.1999.0161]
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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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Kuehn, M. H., Stone, E. M., Hageman, G. S.
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<strong>Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.</strong>
|
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Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.
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[PubMed: 11726612]
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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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Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P.
|
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<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
|
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Ophthalmology 121: 2406-2414, 2014.
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[PubMed: 25085631]
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[Full Text: https://doi.org/10.1016/j.ophtha.2014.06.028]
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</p>
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</li>
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</ol>
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<div>
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<br />
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Contributors:
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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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Marla J. F. O'Neill - updated : 09/10/2021<br>Marla J. F. O'Neill - updated : 12/30/2014<br>Marla J. F. O'Neill - updated : 10/5/2010<br>Carol A. Bocchini - updated : 6/20/2002
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</span>
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<span class="mim-text-font">
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Jane Kelly : 6/20/2002
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carol : 09/11/2021<br>carol : 09/10/2021<br>carol : 10/19/2017<br>carol : 12/30/2014<br>carol : 12/30/2014<br>carol : 10/3/2011<br>wwang : 10/7/2010<br>terry : 10/5/2010<br>carol : 7/9/2002<br>terry : 6/21/2002<br>carol : 6/21/2002<br>carol : 6/20/2002<br>carol : 6/20/2002
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