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Prepair 1000+

Gene: ABCA4

Red List (low evidence)

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

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