Mackenzie's Mission_Reproductive Carrier Screening
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

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Decision to exclude from MM Gene List on 01/04/21.

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 screning for ABCA4. Other options such as a greenlist or screening only LOF variants are not suitable for screening at population level.
Created: 9 Apr 2021, 6:30 a.m. | Last Modified: 9 Apr 2021, 6:30 a.m.

Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 9 Apr 2021, 6:30 a.m.
Last Modified: 9 Apr 2021, 6:30 a.m.
Panel version: 0.54

Details

Mode of Inheritance

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

OMIM

601691

Clinvar variants

Variants in ABCA4

Penetrance

None

Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ABCA4 were changed from Cone-rod dystrophy 3, 604116 (3) to Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200; Cone-rod dystrophy 3 MIM#604116

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3)

Mackenzie's Mission_Reproductive Carrier Screening Gene: ABCA4