Retinal disorders
Gene: GPR179
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal-Recessive Complete Congenital Stationary Night Blindness
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.
Review from Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel:
"One of the five proven causes of ON-bipolar cell dysfunction (synonym = complete CSNB). Others : NYX, TRPM1, GRM6, LRIT3"
Gene rating: Green List (high evidence)
Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phenotypes: complete congenital stationary night blindness
Publications: 24715752; 23714322; 22325362; 22325361
Review made: Panel Version: 0Created: 18 Apr 2016, 12:59 p.m.
Source NHS GMS was added to GPR179. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
GPR179 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
GPR179 was created by ellenmcdonagh