Retinal disorders
Gene: TRPM1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness; congenital stationary; type 1C
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.
Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar cell dysfunction (complete CSNB) - similar phenotype to NYX, GPR179, GRM6 and LRIT3". Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal. Phenotypes: complete congenital stationary night blindness. Publications: 19896113; 19896109; 19878917. Review made: Panel Version: 0, Oct. 19, 2015, 10:31 a.m.Created: 26 Apr 2016, 12:38 p.m.
Source NHS GMS was added to TRPM1. 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 TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
TRPM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
TRPM1 was created by ellenmcdonagh