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"symbol": "RPA1", "ensemblId": "ENSG00000132383", "biotype": "protein_coding", "start": 1829702, "end": 1900082, "strand": "+", "slug": "rpa1" }, { "symbol": "RTN4RL1", "ensemblId": "ENSG00000185924", "biotype": "protein_coding", "start": 1934677, "end": 2025355, "strand": "-", "slug": "rtn4rl1" }, { "symbol": "DPH1", "ensemblId": "ENSG00000108963", "biotype": "protein_coding", "start": 2030136, "end": 2043898, "strand": "+", "slug": "dph1" }, { "symbol": "OVCA2", "ensemblId": "ENSG00000262664", "biotype": "protein_coding", "start": 2042022, "end": 2043898, "strand": "+", "slug": "ovca2" }, { "symbol": "HIC1", "ensemblId": "ENSG00000177374", "biotype": "protein_coding", "start": 2054154, "end": 2063241, "strand": "+", "slug": "hic1" }, { "symbol": "SMG6", "ensemblId": "ENSG00000070366", "biotype": "protein_coding", "start": 2059839, "end": 2303934, "strand": "-", "slug": "smg6" } ], "truncated": false }, "reports": [ { "slug": "retinitis-pigmentosa", "name": "Retinitis pigmentosa", "diseases": [ { "mondoId": "MONDO:0700234", "name": "PRPF8-geeniin liittyvä retinopatia", "genes": 1, "inheritance": "autosomal-dominant", "description": "Verkkokalvon dystrofia, jonka aiheuttavat PRPF8-geenin muutokset.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019200", "name": "Retinitis pigmentosa", "genes": 77, "inheritance": null, "description": "Perinnöllisten verkkokalvon dystrofioiden ryhmä, jossa sauvasolut ja sitten tappisolut menettävät asteittain toimintakykynsä. Tästä seuraa yösokeutta ja hitaasti etenevä reunanäön heikkeneminen.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fi/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": "asteroid-hyalosis", "name": "Asteroid hyalosis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asteroid-hyalosis" }, { "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": "very-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": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "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": "perifoveal-ring-of-hyperautofluorescence", "name": "Perifoveal ring of hyperautofluorescence", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence" }, { "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": "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": "subcapsular-cataract", "name": "Subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subcapsular-cataract" }, { "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/fi/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/fi/genes/ahr" }, { "slug": "arhgef18", "symbol": "ARHGEF18", "name": "Rho/Rac guanine nucleotide exchange factor 18", "shared": 1, "url": "https://dantelabs.com/fi/genes/arhgef18" }, { "slug": "arl2bp", "symbol": "ARL2BP", "name": "ARF like GTPase 2 binding protein", "shared": 1, "url": "https://dantelabs.com/fi/genes/arl2bp" }, { "slug": "arl3", "symbol": "ARL3", "name": "ARF like GTPase 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/arl3" }, { "slug": "arl6", "symbol": "ARL6", "name": "ARF like GTPase 6", "shared": 1, "url": "https://dantelabs.com/fi/genes/arl6" }, { "slug": "bbs2", "symbol": "BBS2", "name": "Bardet-Biedl syndrome 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/bbs2" }, { "slug": "best1", "symbol": "BEST1", "name": "bestrophin 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/best1" }, { "slug": "ca4", "symbol": "CA4", "name": "carbonic anhydrase 4", "shared": 1, "url": "https://dantelabs.com/fi/genes/ca4" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/fi/genes/cc2d2a" }, { "slug": "cdhr1", "symbol": "CDHR1", "name": "cadherin related family member 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/cdhr1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }