Retinal disordersGene: ELOVL4
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.
Comment on mode of inheritance: Mode of inheritance for Stargardt disease 3 (source: OMIM).
Created: 22 Mar 2016, 11:59 a.m.
Source NHS GMS was added to ELOVL4. 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 ELOVL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ELOVL4 was created by ellenmcdonagh
ELOVL4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green