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Gene: ABCA4

ABCA4 (ATP binding cassette subfamily A member 4)
EnsemblGeneIds (GRCh38): ENSG00000198691
EnsemblGeneIds (GRCh37): ENSG00000198691
OMIM: 601691, Gene2Phenotype
ABCA4 is in 8 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Red List (low evidence)

Not suitable for screening, due to the presence of complex alleles, unclear age of onset/penetrance, and lack of actionability. (VCGS internal discussion, Apr 2024)

Additionally, Mackenzie's Mission Review:
Very large numbers of missense variants, the majority of which are associated with a less severe phenotype in comparison with other conditions on the list. Curation of variants is burdensome and not scalable to population level. Eye geneticist consulted does not recommend screening for ABCA4.
Created: 6 Feb 2025, 5:57 a.m. | Last Modified: 6 Feb 2025, 5:57 a.m.

Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 19, MIM#601718; Retinal dystrophy, early-onset severe, MIM#248200; Stargardt disease 1, MIM#248200; Cone-rod dystrophy 3, MIM#604116

Created: 6 Feb 2025, 5:57 a.m.
Last Modified: 6 Feb 2025, 5:57 a.m.
Panel version: 1.1459

Details

Mode of Inheritance

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

OMIM

601691

Clinvar variants

Variants in ABCA4

Penetrance

None

Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abca4 has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCA4 was added gene: ABCA4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3 MIM#604116; Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200

Prepair 1000+ Gene: ABCA4