Retinitis pigmentosa_Autosomal Dominant
Gene: RDH12
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
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