Retinal disordersGene: GUCA1A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cone dystrophy-3; Cone-rod dystrophy 14
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.
Source NHS GMS was added to GUCA1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
GUCA1A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
GUCA1A was created by ellenmcdonagh