Retinal disorders
Gene: RDH5Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).
In addition, a review of the database of patients with inherited retinal disease at Moorfields Eye Hospital London and The Hospital for Sick Children Toronto identified 17 patients with confirmed biallelic mutations in RDH5. Of these, seven patients (from six families) had macular atrophy evident on SD-OCT and/or fundus autofluorescence imaging.Created: 10 Feb 2023, 10:11 a.m. | Last Modified: 10 Feb 2023, 10:14 a.m.
Panel Version: 3.31
Comment on publications: Added publications suggested from external expert reviewCreated: 13 Jul 2018, 4:03 p.m.
Comment on mode of inheritance: updated MOI from external expert review and OMIMCreated: 13 Jul 2018, 4:02 p.m.
https://www.omim.org/entry/601617Created: 1 Jun 2018, 6:05 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
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.
Publications for gene: RDH5 were set to 21529959
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