Glaucoma (developmental)
Gene: ABCA4EnsemblGeneIds (GRCh38): ENSG00000198691
EnsemblGeneIds (GRCh37): ENSG00000198691
OMIM: 601691, Gene2Phenotype
ABCA4 is in 3 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 601691
- Clinvar variants
- Variants in ABCA4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ABCA4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory