ABCA4

ATP binding cassette subfamily A member 4
OMIM: 601691, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red ABCA4 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Expert Review Red Emory Genetics Laboratory Phenotypes Eye Disorders
Green ABCA4 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Macular Dystrophy/Degeneration/Stargardt Disease Stargardt disease 1, 248200 Macular Degeneration (Dominant) Stargardt Disease, Recessive Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular degeneration, age-related, 2, 153800 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200 Eye Disorders Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular degeneration, age-related, 2, 153800 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Macular Degeneration Stargardt Disease 1 STGD1
Red ABCA4 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Cone-rod dystrophy 3, 604116 Retinal dystrophy, early-onset severe Eye Disorders Fundus flavimaculatus {Macular degeneration, age-related, 2}, 153800 Retinitis pigmentosa 19, 601718 Stargardt disease 1, 248200