Retinal disordersGene: RDH12
Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes.
Created: 19 Nov 2019, 10:46 a.m. | Last Modified: 19 Nov 2019, 10:46 a.m.
Panel Version: 1.228
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RDH12 were set to
Source NHS GMS was added to RDH12. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
RDH12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RDH12 was created by ellenmcdonagh