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  3. ABCA4
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Macular Dystrophy/Stargardt Disease

Gene: ABCA4

Green List (high 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

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, 12:49 a.m. | Last Modified: 21 Apr 2020, 12:49 a.m.
Panel Version: 0.8

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, 12:49 a.m.
Last Modified: 21 Apr 2020, 12:49 a.m.
Panel version: 0.8

Details

Mode of Inheritance
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
OMIM
601691
Clinvar variants
Variants in ABCA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: ABCA4.

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abca4 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCA4 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCA4 was added gene: ABCA4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to 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