Retinal disordersGene: RPGRIP1
Mutation mechanism (not loss of function) is Loss of function/All missense
Created: 17 Jan 2017, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leber congenital amaurosis 6; Cone-rod dystrophy 13
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 RPGRIP1. 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 RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
RPGRIP1 was created by ellenmcdonagh
RPGRIP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green