{
  "url": "https://dantelabs.com/de/genes/rdh12",
  "gene": {
    "slug": "rdh12",
    "symbol": "RDH12",
    "name": "retinol dehydrogenase 12",
    "hgnc": "HGNC:19977",
    "summary": null,
    "location": "14q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ30273",
      "SDR7C2",
      "LCA13",
      "RP53"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000139988",
    "entrezId": 145226,
    "omim": [
      "608830"
    ],
    "uniprot": [
      "Q96NR8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 67701886,
      "end": 67734451,
      "strand": "+",
      "ensemblTranscript": "ENST00000551171.6",
      "refseqTranscript": "NM_152443.3",
      "ensemblProtein": "ENSP00000449079.1",
      "refseqProtein": "NP_689656.2",
      "exons": [
        {
          "start": 67701886,
          "end": 67701935
        },
        {
          "start": 67720848,
          "end": 67720902
        },
        {
          "start": 67722424,
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        },
        {
          "start": 67724473,
          "end": 67724591
        },
        {
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        },
        {
          "start": 67726051,
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        },
        {
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        },
        {
          "start": 67729191,
          "end": 67729380
        },
        {
          "start": 67733746,
          "end": 67734451
        }
      ],
      "cds": {
        "start": 67722643,
        "end": 67733848
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 68168603,
      "end": 68201169,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67218169,
      "end": 68218168,
      "genes": [
        {
          "symbol": "GARIN2",
          "ensemblId": "ENSG00000172717",
          "biotype": "protein_coding",
          "start": 67189328,
          "end": 67228550,
          "strand": "+",
          "slug": "garin2"
        },
        {
          "symbol": "PALS1",
          "ensemblId": "ENSG00000072415",
          "biotype": "protein_coding",
          "start": 67240713,
          "end": 67336061,
          "strand": "+",
          "slug": "pals1"
        },
        {
          "symbol": "ATP6V1D",
          "ensemblId": "ENSG00000100554",
          "biotype": "protein_coding",
          "start": 67294371,
          "end": 67360265,
          "strand": "-",
          "slug": "atp6v1d"
        },
        {
          "symbol": "EIF2S1",
          "ensemblId": "ENSG00000134001",
          "biotype": "protein_coding",
          "start": 67359993,
          "end": 67394395,
          "strand": "+",
          "slug": "eif2s1"
        },
        {
          "symbol": "PLEK2",
          "ensemblId": "ENSG00000100558",
          "biotype": "protein_coding",
          "start": 67385652,
          "end": 67412236,
          "strand": "-",
          "slug": "plek2"
        },
        {
          "symbol": "TMEM229B",
          "ensemblId": "ENSG00000198133",
          "biotype": "protein_coding",
          "start": 67447084,
          "end": 67533878,
          "strand": "-",
          "slug": "tmem229b"
        },
        {
          "symbol": "PLEKHH1",
          "ensemblId": "ENSG00000054690",
          "biotype": "protein_coding",
          "start": 67533063,
          "end": 67589725,
          "strand": "+",
          "slug": "plekhh1"
        },
        {
          "symbol": "PIGH",
          "ensemblId": "ENSG00000100564",
          "biotype": "protein_coding",
          "start": 67581955,
          "end": 67600316,
          "strand": "-",
          "slug": "pigh"
        },
        {
          "symbol": "ARG2",
          "ensemblId": "ENSG00000081181",
          "biotype": "protein_coding",
          "start": 67619857,
          "end": 67667328,
          "strand": "+",
          "slug": "arg2"
        },
        {
          "symbol": "VTI1B",
          "ensemblId": "ENSG00000100568",
          "biotype": "protein_coding",
          "start": 67635307,
          "end": 67674920,
          "strand": "-",
          "slug": "vti1b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258466",
          "biotype": "protein_coding",
          "start": 67659820,
          "end": 67690367,
          "strand": "-"
        },
        {
          "symbol": "RDH11",
          "ensemblId": "ENSG00000072042",
          "biotype": "protein_coding",
          "start": 67676792,
          "end": 67695793,
          "strand": "-",
          "slug": "rdh11"
        },
        {
          "symbol": "ZFYVE26",
          "ensemblId": "ENSG00000072121",
          "biotype": "protein_coding",
          "start": 67727374,
          "end": 67816590,
          "strand": "-",
          "slug": "zfyve26"
        },
        {
          "symbol": "RAD51B",
          "ensemblId": "ENSG00000182185",
          "biotype": "protein_coding",
          "start": 67819741,
          "end": 68730218,
          "strand": "+",
          "slug": "rad51b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leber-congenital-amaurosis",
        "name": "Leber-Kongenitale Amaurose & RPE65-bedingte Retinopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0018998",
            "name": "Leber-kongenitale Amaurose",
            "genes": 21,
            "inheritance": "autosomal-recessive",
            "description": "Eine Gruppe erblicher Netzhautdystrophien, verursacht durch Veränderungen in Genen wie CEP290, GUCY2D, CRB1, RPE65 und AIPL1, die im Säuglingsalter zu schwerem Sehverlust, Nystagmus und eingeschränkten Pupillenreaktionen führen.",
            "management": "Die Bestätigung des Gens kann über die Eignung für genspezifische Behandlungen und klinische Studien entscheiden und dient der genetischen Beratung der Familie.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/leber-congenital-amaurosis"
      },
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinitis pigmentosa",
            "genes": 77,
            "inheritance": null,
            "description": "Eine Gruppe erblicher Netzhautdystrophien mit fortschreitendem Verlust der Stäbchen- und anschließend der Zapfen-Photorezeptoren. Dies führt zu Nachtblindheit und einem allmählichen Verlust des peripheren Sehvermögens.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/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-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "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": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "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": "aplasia-hypoplasia-of-the-cerebellar-vermis",
        "name": "Aplasia/Hypoplasia of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "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": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "eye-poking",
        "name": "Eye poking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-poking"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "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": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "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": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "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": "crb1",
        "symbol": "CRB1",
        "name": "crumbs cell polarity complex component 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "name": "cone-rod homeobox",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/crx"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "name": "inosine monophosphate dehydrogenase 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/impdh1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "name": "peripherin 2",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/prph2"
      },
      {
        "slug": "rom1",
        "symbol": "ROM1",
        "name": "retinal outer segment membrane protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/rom1"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "name": "retinoid isomerohydrolase RPE65",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/rpe65"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "name": "spermatogenesis associated 7",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/spata7"
      },
      {
        "slug": "tulp1",
        "symbol": "TULP1",
        "name": "TUB like protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/tulp1"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ahr"
      },
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "name": "AIP like 1 HSP90 co-chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aipl1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}