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Retinal disorders

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 3 panels

5 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Remove ad-inheritance association
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: Changed from both monoallelic and biallelic to just biallelic as adviced by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital). ABCA4 is a susceptibility factor rather than a monogenic cause of macular degeneration; therefore, the monoallelic MOI was removed.
Created: 19 Jun 2019, 3:07 p.m.
Created: 19 Jun 2019, 3:07 p.m.

Panel version: 1.140

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:29 p.m.

Panel version: 1.14

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Consider changing to biallelic only; evidence for monoallelic association with early onset retinal disease is weak.
Created: 14 Nov 2016, 11:50 a.m.
Created: 14 Nov 2016, 11:50 a.m.

Panel version: 1.13

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:03 a.m.
Comment when marking as ready: Rated red by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: This causes a progressive (not congenital) disorder predominantly of cones. So, it fails on two accounts to be causative of rod dysfunction.- Andrew Webster (Moorfields Eye Hospital), Oct. 19, 2015, 10:07 a.m.
Created: 18 Apr 2016, 12:47 p.m.
Rated green on the inherited macular dystrophy panel (version 0) by Penny Clouston (Oxford) and Andrew Webster (Moorfields Eye Hospital).
Created: 18 Apr 2016, 12:40 p.m.
Created: 18 Apr 2016, 12:40 p.m.

Panel version: 0.159

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Stargardt disease 1, 248200
  • Macular Degeneration (Dominant)
  • Stargardt Disease, Recessive
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular degeneration, age-related, 2, 153800
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200
  • Eye Disorders
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular degeneration, age-related, 2, 153800
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Macular Degeneration
  • Stargardt Disease 1
  • STGD1
OMIM
601691
Clinvar variants
Variants in ABCA4
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: ABCA4.

19 Jun 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ABCA4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABCA4. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Nov 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for ABCA4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ABCA4 was created by ellenmcdonagh