Cone-rod Dystrophy
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Recent publication reports deep intronic variants that were previously missed in patients where only 1 variant was initially identified, demonstrating the importance of assessing noncoding variants (PMID: 30643219).
Created: 21 Apr 2020, 12:48 a.m. | Last Modified: 21 Apr 2020, 12:48 a.m.

Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Apr 2020, 12:48 a.m.
Last Modified: 21 Apr 2020, 12:48 a.m.
Panel version: Imported from Retinal Disorders panel version 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green

Phenotypes

Cone-rod dystrophy 3, 604116

OMIM

601691

Clinvar variants

Variants in ABCA4

Penetrance

None

Publications

30679166

Panels with this gene

History Filter Activity

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCA4 was added gene: ABCA4 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA4 were set to 30679166 Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116

Cone-rod Dystrophy Gene: ABCA4