Retinal disordersGene: RHO
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Night blindness, congenital stationary, autosomal dominant 1 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) ; Retinitis pigmentosa 4, autosomal dominant or recessive (BOTH monoallelic and biallelic, autosomal or pseudoautosomal); Retinitis punctata albescens (BOTH monoallelic and biallelic, autosomal or pseudoautosomal)
Variants in this GENE are reported as part of current diagnostic practice
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 RHO. 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 RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
RHO was created by ellenmcdonagh
RHO was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green