{ "url": "https://dantelabs.com/fr/genes/snrnp200", "gene": { "slug": "snrnp200", "symbol": "SNRNP200", "name": "small nuclear ribonucleoprotein U5 subunit 200", "hgnc": "HGNC:30859", "summary": null, "location": "2q11.2", "locusType": "gene with protein product", "aliases": [ "U5-200KD", "HELIC2", "KIAA0788", "Brr2" ], "previousSymbols": [ "ASCC3L1", "RP33" ], "ensemblId": "ENSG00000144028", "entrezId": 23020, "omim": [ "601664" ], "uniprot": [ "O75643" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 96274338, "end": 96305546, "strand": "-", "ensemblTranscript": "ENST00000323853.10", "refseqTranscript": "NM_014014.5", "ensemblProtein": "ENSP00000317123.5", "refseqProtein": "NP_054733.2", "exons": [ { "start": 96274338, "end": 96275155 }, { "start": 96275257, "end": 96275349 }, { "start": 96276904, "end": 96276985 }, { "start": 96277081, "end": 96277241 }, { "start": 96277539, "end": 96277715 }, { "start": 96277807, "end": 96277950 }, { "start": 96278237, "end": 96278358 }, { "start": 96278547, "end": 96278711 }, { "start": 96278809, "end": 96278998 }, { "start": 96279451, "end": 96279559 }, { "start": 96281814, "end": 96281922 }, { "start": 96283201, "end": 96283352 }, { "start": 96283535, "end": 96283713 }, { "start": 96283813, "end": 96284004 }, { "start": 96284358, "end": 96284585 }, { "start": 96285180, "end": 96285340 }, { "start": 96286311, "end": 96286484 }, { "start": 96286688, "end": 96286877 }, { "start": 96287006, "end": 96287160 }, { "start": 96287439, "end": 96287557 }, { "start": 96287863, "end": 96287969 }, { "start": 96288663, "end": 96288746 }, { "start": 96289037, "end": 96289117 }, { "start": 96289227, "end": 96289379 }, { "start": 96289799, "end": 96289996 }, { "start": 96290326, "end": 96290514 }, { "start": 96290684, "end": 96290815 }, { "start": 96291392, "end": 96291502 }, { "start": 96291751, "end": 96291900 }, { "start": 96292972, "end": 96293095 }, { "start": 96293316, "end": 96293509 }, { "start": 96295488, "end": 96295658 }, { "start": 96296536, "end": 96296691 }, { "start": 96296933, "end": 96297070 }, { "start": 96297363, "end": 96297536 }, { "start": 96297637, "end": 96297720 }, { "start": 96298284, "end": 96298420 }, { "start": 96298603, "end": 96298702 }, { "start": 96298815, "end": 96298967 }, { "start": 96299329, "end": 96299427 }, { "start": 96300998, "end": 96301053 }, { "start": 96301524, "end": 96301716 }, { "start": 96303159, "end": 96303330 }, { "start": 96304705, "end": 96304868 }, { "start": 96305393, "end": 96305546 } ], "cds": { "start": 96275012, "end": 96305437 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 96940074, "end": 96971297, "strand": "-" }, "neighbourhood": { "release": "116", "start": 95789942, "end": 96789941, "genes": [ { "symbol": "ANKRD36C", "ensemblId": "ENSG00000174501", "biotype": "protein_coding", "start": 95836919, "end": 95991843, "strand": "-", "slug": "ankrd36c" }, { "symbol": "GPAT2", "ensemblId": "ENSG00000186281", "biotype": "protein_coding", "start": 96021943, "end": 96039451, "strand": "-", "slug": "gpat2" }, { "symbol": "ADRA2B", "ensemblId": "ENSG00000274286", "biotype": "protein_coding", "start": 96112876, "end": 96116571, "strand": "-", "slug": "adra2b" }, { "symbol": "ASTL", "ensemblId": "ENSG00000188886", "biotype": "protein_coding", "start": 96122818, "end": 96138564, "strand": "-", "slug": "astl" }, { "symbol": "DUSP2", "ensemblId": "ENSG00000158050", "biotype": "protein_coding", "start": 96143166, "end": 96145447, "strand": "-", "slug": "dusp2" }, { "symbol": "STARD7", "ensemblId": "ENSG00000084090", "biotype": "protein_coding", "start": 96184859, "end": 96208854, "strand": "-", "slug": "stard7" }, { "symbol": "TMEM127", "ensemblId": "ENSG00000135956", "biotype": "protein_coding", "start": 96248500, "end": 96266082, "strand": "-", "slug": "tmem127" }, { "symbol": "CIAO1", "ensemblId": "ENSG00000144021", "biotype": "protein_coding", "start": 96266159, "end": 96274173, "strand": "+", "slug": "ciao1" }, { "symbol": "ITPRIPL1", "ensemblId": "ENSG00000198885", "biotype": "protein_coding", "start": 96324977, "end": 96330517, "strand": "+", "slug": "itpripl1" }, { "symbol": "NCAPH", "ensemblId": "ENSG00000121152", "biotype": "protein_coding", "start": 96335728, "end": 96377091, "strand": "+", "slug": "ncaph" }, { "symbol": "NEURL3", "ensemblId": "ENSG00000163121", "biotype": "protein_coding", "start": 96497644, "end": 96508153, "strand": "-", "slug": "neurl3" }, { "symbol": "ARID5A", "ensemblId": "ENSG00000196843", "biotype": "protein_coding", "start": 96536699, "end": 96552639, "strand": "+", "slug": "arid5a" }, { "symbol": "KANSL3", "ensemblId": "ENSG00000114982", "biotype": "protein_coding", "start": 96584179, "end": 96642787, "strand": "-", "slug": "kansl3" }, { "symbol": "FER1L5", "ensemblId": "ENSG00000249715", "biotype": "protein_coding", "start": 96642737, "end": 96704887, "strand": "+", "slug": "fer1l5" }, { "symbol": "LMAN2L", "ensemblId": "ENSG00000114988", "biotype": "protein_coding", "start": 96704824, "end": 96740087, "strand": "-", "slug": "lman2l" }, { "symbol": "CNNM4", "ensemblId": "ENSG00000158158", "biotype": "protein_coding", "start": 96760858, "end": 96811888, "strand": "+", "slug": "cnnm4" } ], "truncated": false }, "reports": [ { "slug": "retinitis-pigmentosa", "name": "Rétinite pigmentaire", "diseases": [ { "mondoId": "MONDO:0800098", "name": "Rétinopathie dominante liée à SNRNP200", "genes": 1, "inheritance": "autosomal-dominant", "description": "Une dystrophie rétinienne causée par des modifications du gène SNRNP200.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019200", "name": "Rétinite pigmentaire", "genes": 77, "inheritance": null, "description": "Un groupe de dystrophies rétiniennes héréditaires caractérisées par la perte progressive des photorécepteurs (bâtonnets, puis cônes), entraînant une cécité nocturne et une perte graduelle de la vision périphérique.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/retinitis-pigmentosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-central-response-of-multifocal-electroretinogram", "name": "Abnormal central response of multifocal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram" }, { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "abnormal-retinal-vascular-morphology", "name": "Abnormality of retina blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "keratoconus", "name": "Bulging cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconus" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "cystoid-macular-edema", "name": "Cystoid macular edema", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cystoid-macular-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-drusen", "name": "Optic disc drusen", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-drusen" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "photopsia", "name": "Photopsia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photopsia" }, { "slug": "photoreceptor-outer-segment-loss-on-macular-oct", "name": "Photoreceptor outer segment loss on macular OCT", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct" }, { "slug": "posterior-subcapsular-cataract", "name": "Posterior subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract" }, { "slug": "progressive-night-blindness", "name": "Progressive night blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-night-blindness" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "retinal-pigment-epithelial-atrophy", "name": "Retinal pigment epithelial atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "abca4", "symbol": "ABCA4", "name": "ATP binding cassette subfamily A member 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/fr/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/fr/genes/ahr" }, { "slug": "arhgef18", "symbol": "ARHGEF18", "name": "Rho/Rac guanine nucleotide exchange factor 18", "shared": 1, "url": "https://dantelabs.com/fr/genes/arhgef18" }, { "slug": "arl2bp", "symbol": "ARL2BP", "name": "ARF like GTPase 2 binding protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/arl2bp" }, { "slug": "arl3", "symbol": "ARL3", "name": "ARF like GTPase 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/arl3" }, { "slug": "arl6", "symbol": "ARL6", "name": "ARF like GTPase 6", "shared": 1, "url": "https://dantelabs.com/fr/genes/arl6" }, { "slug": "bbs2", "symbol": "BBS2", "name": "Bardet-Biedl syndrome 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/bbs2" }, { "slug": "best1", "symbol": "BEST1", "name": "bestrophin 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/best1" }, { "slug": "ca4", "symbol": "CA4", "name": "carbonic anhydrase 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/ca4" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/fr/genes/cc2d2a" }, { "slug": "cdhr1", "symbol": "CDHR1", "name": "cadherin related family member 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdhr1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }