{ "url": "https://dantelabs.com/nl/genes/rdh5", "gene": { "slug": "rdh5", "symbol": "RDH5", "name": "retinol dehydrogenase 5", "hgnc": "HGNC:9940", "summary": null, "location": "12q13.2", "locusType": "gene with protein product", "aliases": [ "HSD17B9", "SDR9C5" ], "previousSymbols": [ "RDH1" ], "ensemblId": "ENSG00000135437", "entrezId": 5959, "omim": [ "601617" ], "uniprot": [ "Q92781" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 55720393, "end": 55724705, "strand": "+", "ensemblTranscript": "ENST00000257895.10", "refseqTranscript": "NM_002905.5", "ensemblProtein": "ENSP00000257895.6", "refseqProtein": "NP_002896.2", "exons": [ { "start": 55720393, "end": 55720517 }, { "start": 55721153, "end": 55721494 }, { "start": 55721689, "end": 55721947 }, { "start": 55723886, "end": 55724049 }, { "start": 55724322, "end": 55724705 } ], "cds": { "start": 55721185, "end": 55724545 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 56114151, "end": 56118489, "strand": "+" }, "neighbourhood": { "release": "116", "start": 55222549, "end": 56222548, "genes": [ { "symbol": "OR6C74", "ensemblId": "ENSG00000197706", "biotype": "protein_coding", "start": 55244609, "end": 55256625, "strand": "+", "slug": "or6c74" }, { "symbol": "OR6C6", "ensemblId": "ENSG00000188324", "biotype": "protein_coding", "start": 55293988, "end": 55296569, "strand": "-", "slug": "or6c6" }, { "symbol": "OR6C1", "ensemblId": "ENSG00000205330", "biotype": "protein_coding", "start": 55314343, "end": 55322364, "strand": "+", "slug": "or6c1" }, { "symbol": "OR6C3", "ensemblId": "ENSG00000205329", "biotype": "protein_coding", "start": 55330043, "end": 55332687, "strand": "+", "slug": "or6c3" }, { "symbol": "OR6C75", "ensemblId": "ENSG00000187857", "biotype": "protein_coding", "start": 55362975, "end": 55369279, "strand": "+", "slug": "or6c75" }, { "symbol": "OR6C65", "ensemblId": "ENSG00000205328", "biotype": "protein_coding", "start": 55400529, "end": 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"ENSG00000175398", "biotype": "protein_coding", "start": 55636892, "end": 55637833, "strand": "+", "slug": "or10p1" }, { "symbol": "ITGA7", "ensemblId": "ENSG00000135424", "biotype": "protein_coding", "start": 55679139, "end": 55716404, "strand": "-", "slug": "itga7" }, { "symbol": "TMT1B", "ensemblId": "ENSG00000170439", "biotype": "protein_coding", "start": 55681445, "end": 55695748, "strand": "+", "slug": "tmt1b" }, { "symbol": "BLOC1S1", "ensemblId": "ENSG00000135441", "biotype": "protein_coding", "start": 55715911, "end": 55720087, "strand": "+", "slug": "bloc1s1" }, { "symbol": "", "ensemblId": "ENSG00000258311", "biotype": "protein_coding", "start": 55716036, "end": 55724703, "strand": "+" }, { "symbol": "CD63", "ensemblId": "ENSG00000135404", "biotype": "protein_coding", "start": 55723511, "end": 55737367, "strand": "-", "slug": "cd63" }, { "symbol": "GDF11", "ensemblId": "ENSG00000135414", "biotype": "protein_coding", "start": 55743122, "end": 55757264, "strand": "+", "slug": "gdf11" }, { "symbol": "SARNP", "ensemblId": "ENSG00000205323", "biotype": "protein_coding", "start": 55751195, "end": 55817912, "strand": "-", "slug": "sarnp" }, { "symbol": "", "ensemblId": "ENSG00000257390", "biotype": "protein_coding", "start": 55757275, "end": 55827546, "strand": "-" }, { "symbol": "ORMDL2", "ensemblId": "ENSG00000123353", "biotype": "protein_coding", "start": 55818034, "end": 55824097, "strand": "+", "slug": "ormdl2" }, { "symbol": "DNAJC14", "ensemblId": "ENSG00000135392", "biotype": "protein_coding", "start": 55818839, "end": 55830824, "strand": "-", "slug": "dnajc14" }, { "symbol": "MMP19", "ensemblId": "ENSG00000123342", "biotype": "protein_coding", "start": 55835433, "end": 55843005, "strand": "-", "slug": "mmp19" }, { "symbol": "PYM1", "ensemblId": "ENSG00000170473", "biotype": "protein_coding", "start": 55901413, "end": 55932618, "strand": "-", "slug": "pym1" }, { "symbol": "DGKA", "ensemblId": "ENSG00000065357", "biotype": "protein_coding", "start": 55927319, "end": 55954027, "strand": "+", "slug": "dgka" }, { "symbol": "PMEL", "ensemblId": "ENSG00000185664", "biotype": "protein_coding", "start": 55954104, "end": 55973317, "strand": "-", "slug": "pmel" }, { "symbol": "CDK2", "ensemblId": "ENSG00000123374", "biotype": "protein_coding", "start": 55966781, "end": 55972789, "strand": "+", "slug": "cdk2" }, { "symbol": "RAB5B", "ensemblId": "ENSG00000111540", "biotype": "protein_coding", "start": 55973859, "end": 55996683, "strand": "+", "slug": "rab5b" }, { "symbol": "SUOX", "ensemblId": "ENSG00000139531", "biotype": "protein_coding", "start": 55996855, "end": 56006641, "strand": "+", "slug": "suox" }, { "symbol": "IKZF4", "ensemblId": "ENSG00000123411", "biotype": "protein_coding", "start": 56007392, "end": 56038435, "strand": "+", "slug": "ikzf4" }, { "symbol": "RPS26", "ensemblId": "ENSG00000197728", "biotype": "protein_coding", "start": 56041351, "end": 56044697, "strand": "+", "slug": "rps26" }, { "symbol": "ERBB3", "ensemblId": "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": "Congenitale stationaire nachtblindheid", "diseases": [ { "mondoId": "MONDO:0007639", "name": "Fundus albipunctatus", "genes": 3, "inheritance": "autosomal-recessive", "description": "Een vorm van stationaire nachtblindheid, meestal veroorzaakt door veranderingen in beide kopieën van RDH5, met veel kleine witte stipjes in het netvlies en een trage aanpassing aan het donker.", "management": "Het kennen van de oorzaak helpt een verkeerde diagnose van een progressieve netvliesdystrofie te voorkomen.", "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/nl/conditions/congenital-stationary-night-blindness" }, { "slug": "hereditary-macular-dystrophies", "name": "Erfelijke maculadystrofieën", "diseases": [ { "mondoId": "MONDO:1040055", "name": "Met PRPH2 samenhangende retinopathie", "genes": 4, "inheritance": "autosomal-dominant", "description": "Een netvliesaandoening veroorzaakt door veranderingen in PRPH2, die patroondystrofie, vitelliforme dystrofie bij volwassenen of een bredere netvliesdegeneratie kan veroorzaken, zelfs binnen één familie.", "management": "Regelmatige oogonderzoeken helpen complicaties op te sporen en ondersteunen de planning van de zorg.", "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/nl/conditions/hereditary-macular-dystrophies" }, { "slug": "rdh5-related-retinopathy-fundus-albipunctatus", "name": "RDH5-gerelateerde retinopathie (Fundus albipunctatus)", "diseases": [ { "mondoId": "MONDO:0100443", "name": "RDH5-gerelateerde retinopathie (Fundus albipunctatus)", "genes": 3, "inheritance": "autosomal-recessive", "description": "Veroorzaakt door veranderingen in beide kopieën van RDH5, een enzym in de visuele cyclus dat het lichtgevoelige pigment van de fotoreceptoren weer aanmaakt. Naar verwachting vertragen deze veranderingen de aanmaak van het pigment, waardoor de ogen veel langer nodig hebben om aan het donker te wennen.", "management": "Regelmatige oogonderzoeken om te controleren op betrokkenheid van de macula of de kegeltjescellen, en advies over het omgaan met nachtzicht. Ouders zijn meestal dragers, dus draagerstesten voor familieleden en genetische counseling zijn beschikbaar.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/rdh5-related-retinopathy-fundus-albipunctatus" }, { "slug": "retinitis-pigmentosa", "name": "Retinitis Pigmentosa", "diseases": [ { "mondoId": "MONDO:0100444", "name": "RLBP1-gerelateerde retinopathie", "genes": 3, "inheritance": "autosomal-recessive", "description": "Een retinale dystrofie veroorzaakt door veranderingen in het RLBP1-gen.", "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/nl/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": 4, "url": "https://dantelabs.com/nl/genes/prph2" }, { "slug": "rlbp1", "symbol": "RLBP1", "name": "retinaldehyde binding protein 1", "shared": 4, "url": "https://dantelabs.com/nl/genes/rlbp1" }, { "slug": "rom1", "symbol": "ROM1", "name": "retinal outer segment membrane protein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/rom1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }