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Research panel - Severe Paediatric 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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ABCA4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cone-rod dystrophy 3, 604116 (3) | Fundus flavimaculatus, 248200 (3) | Retinal dystrophy, early-onset severe, 248200 (3) | Retinitis pigmentosa 19, 601718 (3) | Stargardt disease 1, 248200 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy, early-onset severe, 248200
  • Fundus flavimaculatus, 248200
  • Stargardt disease 1, 248200
  • Cone-rod dystrophy 3, 604116
  • Retinitis pigmentosa 19, 601718
OMIM
601691
Clinvar variants
Variants in ABCA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ABCA4 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ABCA4.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ABCA4. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ABCA4 was added gene: ABCA4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ABCA4 was set to