{ "url": "https://dantelabs.com/es/genes/trpm1", "gene": { "slug": "trpm1", "symbol": "TRPM1", "name": "transient receptor potential cation channel subfamily M member 1", "hgnc": "HGNC:7146", "summary": null, "location": "15q13.3", "locusType": "gene with protein product", "aliases": [ "LTRPC1", "CSNB1C" ], "previousSymbols": [ "MLSN1" ], "ensemblId": "ENSG00000134160", "entrezId": 4308, "omim": [ "603576" ], "uniprot": [ "Q7Z4N2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 31001065, "end": 31101725, "strand": "-", "ensemblTranscript": "ENST00000256552.11", "refseqTranscript": "NM_001252024.2", "ensemblProtein": "ENSP00000256552.7", "refseqProtein": "NP_001238953.1", "exons": [ { "start": 31001065, "end": 31003070 }, { "start": 31026139, "end": 31026271 }, { "start": 31026915, "end": 31027117 }, { "start": 31028332, "end": 31028476 }, { "start": 31029371, "end": 31029391 }, { "start": 31030983, "end": 31031157 }, { "start": 31032689, "end": 31032940 }, { 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"-" }, "neighbourhood": { "release": "116", "start": 30551395, "end": 31551394, "genes": [ { "symbol": "GOLGA8Q", "ensemblId": "ENSG00000178115", "biotype": "protein_coding", "start": 30552050, "end": 30565684, "strand": "+", "slug": "golga8q" }, { "symbol": "GOLGA8H", "ensemblId": "ENSG00000261794", "biotype": "protein_coding", "start": 30604028, "end": 30617752, "strand": "+", "slug": "golga8h" }, { "symbol": "ARHGAP11B", "ensemblId": "ENSG00000285077", "biotype": "protein_coding", "start": 30624494, "end": 30649529, "strand": "+", "slug": "arhgap11b" }, { "symbol": "", "ensemblId": "ENSG00000284906", "biotype": "protein_coding", "start": 30624548, "end": 30773002, "strand": "+" }, { "symbol": "FAN1", "ensemblId": "ENSG00000198690", "biotype": "protein_coding", "start": 30890559, "end": 30946209, "strand": "+", "slug": "fan1" }, { "symbol": "MTMR10", "ensemblId": "ENSG00000166912", "biotype": "protein_coding", "start": 30918719, "end": 30991979, "strand": "-", "slug": "mtmr10" }, { "symbol": "KLF13", "ensemblId": "ENSG00000169926", "biotype": "protein_coding", "start": 31326687, "end": 31435665, "strand": "+", "slug": "klf13" }, { "symbol": "OTUD7A", "ensemblId": "ENSG00000169918", "biotype": "protein_coding", "start": 31475398, "end": 31870789, "strand": "-", "slug": "otud7a" } ], "truncated": false }, "reports": [ { "slug": "congenital-stationary-night-blindness", "name": "Ceguera nocturna estacionaria congénita", "diseases": [ { "mondoId": "MONDO:0016293", "name": "Ceguera nocturna estacionaria congénita", "genes": 16, "inheritance": null, "description": "Grupo de enfermedades de la retina en su mayoría no progresivas, entre ellas la enfermedad de Oguchi, causadas por alteraciones en genes como NYX, CACNA1F, TRPM1, GRM6, GPR179 y SAG, a menudo con nistagmo o miopía.", "management": "Un diagnóstico genético explica los síntomas, ayuda a distinguir la enfermedad de las enfermedades progresivas de la retina y orienta el asesoramiento familiar.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/congenital-stationary-night-blindness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "early-onset-non-progressive-night-blindness", "name": "Night blindness since birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness" } ], "related": [ { "slug": "cabp4", "symbol": "CABP4", "name": "calcium binding protein 4", "shared": 1, "url": "https://dantelabs.com/es/genes/cabp4" }, { "slug": "cacna1f", "symbol": "CACNA1F", "name": "calcium voltage-gated channel subunit alpha1 F", "shared": 1, "url": "https://dantelabs.com/es/genes/cacna1f" }, { "slug": "gnat1", "symbol": "GNAT1", "name": "G protein subunit alpha transducin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/gnat1" }, { "slug": "gnb3", "symbol": "GNB3", "name": "G protein subunit beta 3", "shared": 1, "url": "https://dantelabs.com/es/genes/gnb3" }, { "slug": "gpr179", "symbol": "GPR179", "name": "G protein-coupled receptor 179", "shared": 1, "url": "https://dantelabs.com/es/genes/gpr179" }, { "slug": "grk1", "symbol": "GRK1", "name": "G protein-coupled receptor kinase 1", "shared": 1, "url": "https://dantelabs.com/es/genes/grk1" }, { "slug": "grm6", "symbol": "GRM6", "name": "glutamate metabotropic receptor 6", "shared": 1, "url": "https://dantelabs.com/es/genes/grm6" }, { "slug": "gucy2d", "symbol": "GUCY2D", "name": "guanylate cyclase 2D, retinal", "shared": 1, "url": "https://dantelabs.com/es/genes/gucy2d" }, { "slug": "lrit3", "symbol": "LRIT3", "name": "leucine rich repeat, Ig-like and transmembrane domains 3", "shared": 1, "url": "https://dantelabs.com/es/genes/lrit3" }, { "slug": "nyx", "symbol": "NYX", "name": "nyctalopin", "shared": 1, "url": "https://dantelabs.com/es/genes/nyx" }, { "slug": "pde6b", "symbol": "PDE6B", "name": "phosphodiesterase 6B", "shared": 1, "url": "https://dantelabs.com/es/genes/pde6b" }, { "slug": "rho", "symbol": "RHO", "name": "rhodopsin", "shared": 1, "url": "https://dantelabs.com/es/genes/rho" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }