Structural eye disease
Gene: ABCA4
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 3; Fundus flavimaculatus; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Stargardt disease 1; {Macular degeneration, age-related, 2}; 604116; 248200; 248200; 601718; 248200; 153800
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 3, 604116; Fundus flavimaculatus; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200; {Macular degeneration, age-related, 2}, 153800
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to ABCA4. Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 3, 604116; Retinal dystrophy, early-onset severe; Fundus flavimaculatus; {Macular degeneration, age-related, 2}, 153800; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200 for gene: ABCA4
gene: ABCA4 was added gene: ABCA4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ABCA4 was set to Phenotypes for gene: ABCA4 were set to Eye Disorders