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"ENSG00000065361", "biotype": "protein_coding", "start": 56076799, "end": 56103505, "strand": "+", "slug": "erbb3" }, { "symbol": "", "ensemblId": "ENSG00000257411", "biotype": "protein_coding", "start": 56101331, "end": 56109289, "strand": "+" }, { "symbol": "PA2G4", "ensemblId": "ENSG00000170515", "biotype": "protein_coding", "start": 56104349, "end": 56116329, "strand": "+", "slug": "pa2g4" }, { "symbol": "RPL41", "ensemblId": "ENSG00000229117", "biotype": "protein_coding", "start": 56116585, "end": 56117967, "strand": "+", "slug": "rpl41" }, { "symbol": "ZC3H10", "ensemblId": "ENSG00000135482", "biotype": "protein_coding", "start": 56118243, "end": 56127514, "strand": "+", "slug": "zc3h10" }, { "symbol": "ESYT1", "ensemblId": "ENSG00000139641", "biotype": "protein_coding", "start": 56118250, "end": 56150107, "strand": "+", "slug": "esyt1" }, { "symbol": "MYL6B", "ensemblId": "ENSG00000196465", "biotype": "protein_coding", "start": 56151966, "end": 56159647, "strand": "+", "slug": "myl6b" }, { "symbol": "MYL6", "ensemblId": "ENSG00000092841", "biotype": "protein_coding", "start": 56158322, "end": 56166572, "strand": "+", "slug": "myl6" }, { "symbol": "SMARCC2", "ensemblId": "ENSG00000139613", "biotype": "protein_coding", "start": 56162359, "end": 56189587, "strand": "-", "slug": "smarcc2" }, { "symbol": "RNF41", "ensemblId": "ENSG00000181852", "biotype": "protein_coding", "start": 56202179, "end": 56224275, "strand": "-", "slug": "rnf41" }, { "symbol": "NABP2", "ensemblId": "ENSG00000139579", "biotype": "protein_coding", "start": 56221978, "end": 56229860, "strand": "+", "slug": "nabp2" } ], "truncated": false }, "reports": [ { "slug": "congenital-stationary-night-blindness", "name": "Congenital Stationary Night Blindness", "diseases": [ { "mondoId": "MONDO:0007639", "name": "Fundus Albipunctatus", "genes": 3, "inheritance": "autosomal-recessive", "description": "A form of stationary night blindness, usually caused by changes in both copies of RDH5, with many small white dots in the retina and slow adaptation to the dark.", "management": "Knowing the cause helps avoid misdiagnosis as a progressive retinal dystrophy.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/congenital-stationary-night-blindness" }, { "slug": "hereditary-macular-dystrophies", "name": "Hereditary Macular Dystrophies", "diseases": [ { "mondoId": "MONDO:1040055", "name": "PRPH2-Related Retinopathy", "genes": 4, "inheritance": "autosomal-dominant", "description": "A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.", "management": "Regular eye examinations help detect complications and support planning.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/hereditary-macular-dystrophies" }, { "slug": "retinitis-pigmentosa", "name": "Retinitis Pigmentosa", "diseases": [ { "mondoId": "MONDO:0100444", "name": "RLBP1-Related Retinopathy", "genes": 3, "inheritance": "autosomal-recessive", "description": "A retinal dystrophy caused by changes in the RLBP1 gene.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/retinitis-pigmentosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-fundus-pigmentation", "name": "Abnormal fundus pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-fundus-pigmentation" }, { "slug": "abnormal-light-and-dark-adapted-electroretinogram", "name": "Abnormal light- and dark-adapted electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-light-and-dark-adapted-electroretinogram" }, { "slug": "absent-foveal-reflex", "name": "Absent foveal reflex", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-foveal-reflex" }, { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "cystoid-macular-edema", "name": "Cystoid macular edema", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cystoid-macular-edema" }, { "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": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "fundus-albipunctatus", "name": "Fundus albipunctatus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/fundus-albipunctatus" }, { "slug": "lenticonus", "name": "Lenticonus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lenticonus" }, { "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": "macular-atrophy", "name": "Macular atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-atrophy" }, { "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": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "progressive-visual-loss", "name": "Progressive loss of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-visual-loss" }, { "slug": "progressive-night-blindness", "name": "Progressive night blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-night-blindness" }, { "slug": "progressive-visual-field-defects", "name": "Progressive visual field defects", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-visual-field-defects" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "retinal-flecks", "name": "Retinal flecks", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-flecks" }, { "slug": "retinal-pigment-epithelial-mottling", "name": "Retinal pigment epithelial mottling", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling" }, { "slug": "yellow-white-retinal-lesion", "name": "Yellow/white retinal lesion", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/yellow-white-retinal-lesion" } ], "related": [ { "slug": "prph2", "symbol": "PRPH2", "name": "peripherin 2", "shared": 3, "url": "https://dantelabs.com/genes/prph2" }, { "slug": "rlbp1", "symbol": "RLBP1", "name": "retinaldehyde binding protein 1", "shared": 3, "url": "https://dantelabs.com/genes/rlbp1" }, { "slug": "rom1", "symbol": "ROM1", "name": "retinal outer segment membrane protein 1", "shared": 1, "url": "https://dantelabs.com/genes/rom1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }