Retinal disordersGene: GUCA1B
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, 8:06 a.m.
Small number of publications. Convincing association
Created: 1 Jun 2016, 10:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to GUCA1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for GUCA1B were set to 15452722; 21405999
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GUCA1B was created by ellenmcdonagh
GUCA1B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green