Glaucoma (developmental)
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Red List (Low Evidence).
ABCA4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory