Retinal disordersGene: GRM6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Night blindness; congenital stationary; type 1B
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, 8:04 a.m.
Andrew Webster rated this gene green on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar cell dysfunction (complete CSNB), with similar phenotype to NYX, TRPM1, GPR179 and LRIT3" Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: complete congenital stationary night blindness. Publications: 24715752; 23714322; 22008250; 17405131; 16622103; 15781871. Review made: Panel Version: 0, Oct. 19, 2015, 10:39 a.m.
Created: 26 Apr 2016, 12:41 p.m.
Source NHS GMS was added to GRM6. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GRM6 was changed to BIALLELIC, autosomal or pseudoautosomal
GRM6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
GRM6 was created by ellenmcdonagh