Retinitis pigmentosa_Autosomal Dominant

Gene: RDH12

Green List (high evidence)

RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis))
EnsemblGeneIds (GRCh38): ENSG00000139988
EnsemblGeneIds (GRCh37): ENSG00000139988
OMIM: 608830, Gene2Phenotype
RDH12 is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Moderate by Retina GCEP on 02/03/2023 - https://search.clinicalgenome.org/CCID:008647

Variants have been reported in 4 unrelated probands.
Affected individuals present with RP with a milder phenotype characterised by nyctalopia and visual field loss.
Mechanism of disease is gain of function due to the creating of an alternate reading frame predicted to escape NMD.
Created: 5 Jun 2025, 1:09 a.m. | Last Modified: 5 Jun 2025, 1:09 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RDH12-related dominant retinopathy MONDO:0800100

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • Retinitis Pigmentosa
OMIM
608830
Clinvar variants
Variants in RDH12
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RDH12 was added gene: RDH12 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa