RDH12 Chromosome 14
Retinol dehydrogenase 12
Upload your DNA to see your personal genotypes for variants in RDH12.
What This Gene Does
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000139988
Associated Conditions (17)
Inborn genetic diseases
Leber congenital amaurosis 13
Retinal dystrophy
Leber congenital amaurosis
Macular dystrophy with or without cone dysfunction
Retinitis Pigmentosa
Recessive
Macular dystrophy
Retinitis pigmentosa
Stargardt disease
RDH12-related disorder
Abnormality of the eye
Retinitis pigmentosa 53
Ovarian serous cystadenocarcinoma
Lung cancer
Cone-rod dystrophy
See cases
Key Variants
RS115356583
Conflicting classifications of pathogenicity
Inborn genetic diseases, Leber congenital amaurosis 13, Inborn genetic diseases
Health Risk
RS116802390
Conflicting classifications of pathogenicity
Leber congenital amaurosis 13, Retinal dystrophy, Leber congenital amaurosis
Health Risk
RS1206574200
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Leber congenital amaurosis 13, Leber congenital amaurosis
Health Risk
RS1262243990
Conflicting classifications of pathogenicity
Retinal dystrophy, Leber congenital amaurosis 13, Retinal dystrophy
Health Risk
RS140371232
Conflicting classifications of pathogenicity
Leber congenital amaurosis 13, Retinitis Pigmentosa, Recessive
Health Risk
RS1566847499
Conflicting classifications of pathogenicity
Macular dystrophy, Retinal dystrophy, Leber congenital amaurosis 13
Health Risk
RS1594865434
Conflicting classifications of pathogenicity
Leber congenital amaurosis 13, Leber congenital amaurosis 13
Health Risk
RS200302290
Conflicting classifications of pathogenicity
Retinal dystrophy, Leber congenital amaurosis 13, Retinal dystrophy
Health Risk
RS2140162488
Conflicting classifications of pathogenicity
Leber congenital amaurosis 13, Retinitis pigmentosa, Leber congenital amaurosis 13
Health Risk
RS370015375
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Retinal dystrophy, Leber congenital amaurosis
Health Risk
RS552516182
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 13, Retinal dystrophy
Health Risk
RS61740289
Conflicting classifications of pathogenicity
Leber congenital amaurosis 13, Retinal dystrophy, Leber congenital amaurosis
Health Risk
All Variants (129)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894470 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894471 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Retinal dystrophy, Leber congenital amaurosis |
| RS104894472 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894474 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Retinitis pigmentosa, Retinal dystrophy |
| RS104894475 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13, Retinitis pigmentosa |
| RS104894476 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS116649873 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS116733939 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 13, Retinal dystrophy |
| RS1167979935 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS1342290111 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS1344063890 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS144148976 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1594865068 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS1594867551 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13, Leber congenital amaurosis |
| RS1594867597 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2038170208 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2038182629 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2038195054 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2038232008 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2038232781 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS2038316193 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2140138146 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS2140145266 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503792540 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503797582 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS2503797952 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503798515 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503798936 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503799127 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503804130 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503832440 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503833731 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503833934 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS2503871450 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS386834261 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Retinal dystrophy, Abnormality of the eye |
| RS387906272 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Retinitis pigmentosa, Leber congenital amaurosis 13 |
| RS527236099 | Health Risk | Pathogenic | Retinitis pigmentosa 53, Retinitis pigmentosa, Retinal dystrophy |
| RS745369888 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS749038454 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS752242512 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS753074829 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Leber congenital amaurosis 13 |
| RS755621140 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS755909719 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS760813820 | Health Risk | Pathogenic | Retinal dystrophy, Leber congenital amaurosis 13, Retinal dystrophy |
| RS781331005 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Ovarian serous cystadenocarcinoma, Leber congenital amaurosis 13 |
| RS867494661 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS912107188 | Health Risk | Pathogenic | Leber congenital amaurosis 13, Lung cancer, Leber congenital amaurosis 13 |
| RS1163040913 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis 13, Retinal dystrophy |
| RS121434337 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis, Cone-rod dystrophy |
| RS1225487694 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 13, Leber congenital amaurosis 13 |