Retinal disordersGene: CYP4V2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bietti crystalline corneoretinal dystrophy
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 CYP4V2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CYP4V2 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP4V2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
CYP4V2 was created by ellenmcdonagh