Retinal disordersGene: GUCY2D
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cone-rod dystrophy 6 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Leber congenital amaurosis 1 (BIALLELIC, autosomal or pseudoautosomal)
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.
UKGTN source has Cone-rod dystrophy 6 as autosomal dominant, Leber congenital amaurosis 1 as autosomal recessive.
Created: 26 Apr 2016, 12:42 p.m.
Source NHS GMS was added to GUCY2D. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
GUCY2D was created by ellenmcdonagh
GUCY2D was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green