Retinal disorders
Gene: ABCA4
Remove ad-inheritance associationCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on mode of inheritance: Changed from both monoallelic and biallelic to just biallelic as adviced by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital). ABCA4 is a susceptibility factor rather than a monogenic cause of macular degeneration; therefore, the monoallelic MOI was removed.Created: 19 Jun 2019, 3:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 3; Fundus flavimaculatus; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Stargardt disease 1
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Consider changing to biallelic only; evidence for monoallelic association with early onset retinal disease is weak.Created: 14 Nov 2016, 11:50 a.m.
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, 8:03 a.m.
Comment when marking as ready: Rated red by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: This causes a progressive (not congenital) disorder predominantly of cones. So, it fails on two accounts to be causative of rod dysfunction.- Andrew Webster (Moorfields Eye Hospital), Oct. 19, 2015, 10:07 a.m.Created: 18 Apr 2016, 12:47 p.m.
Rated green on the inherited macular dystrophy panel (version 0) by Penny Clouston (Oxford) and Andrew Webster (Moorfields Eye Hospital).Created: 18 Apr 2016, 12:40 p.m.
Tag watchlist was removed from gene: ABCA4.
Mode of inheritance for gene: ABCA4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to ABCA4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for ABCA4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ABCA4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
ABCA4 was created by ellenmcdonagh