Retinal disordersGene: RDH5
Comment on publications: Added publications suggested from external expert review
Created: 13 Jul 2018, 4:03 p.m.
Comment on mode of inheritance: updated MOI from external expert review and OMIM
Created: 13 Jul 2018, 4:02 p.m.
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.
Source NHS GMS was added to RDH5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: RDH5 were set to 21529959
Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for RDH5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RDH5 was set to BIALLELIC, autosomal or pseudoautosomal
RDH5 was created by ellenmcdonagh
RDH5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green