ABCA4

ATP binding cassette subfamily A member 4
OMIM: 601691, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ABCA4 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 3, 604116 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease 1, 248200 Tags deep intronic
Green ABCA4 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Macular Degeneration (Dominant) Stargardt disease 1, 248200 Macular degeneration, age-related, 2, 153800 Achromatopsia, Cone, and Cone-rod Dystrophy Retinal dystrophy, early-onset severe, 248200 Stargardt Disease, Recessive Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular Dystrophy/Degeneration/Stargardt Disease Fundus flavimaculatus, 248200 Tags deep intronic
Green ABCA4 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 19, 601718 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Macular degeneration, age-related, 2, 153800 Cone-rod dystrophy 3, 604116 Stargardt disease 1, 248200 Tags deep intronic
Red ABCA4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Stargardt disease 1 MIM#248200 Retinal dystrophy, early-onset severe MIM#248200 Cone-rod dystrophy 3 MIM#604116
Green ABCA4 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Cone-rod dystrophy 3, 604116
Green ABCA4 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Stargardt disease
Red ABCA4 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Cone-rod dystrophy 3 MIM#604116 Stargardt disease 1 MIM#248200 Retinal dystrophy, early-onset severe MIM#248200
Red ABCA4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cone-rod dystrophy 3, 604116 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease 1, 248200