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Severe Paediatric Disorders

Gene: ACO2

Green List (high evidence)

ACO2 (aconitase 2)
EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: PMID: 34056600 reports 61 cases of genetically unsolved inherited optic neuropathies who were harbouring variants in ACO2, of which 50 carried dominant variants (the remaining 11 cases were biallelic). The authors state that this is the first report of monoallelic pathogenic ACO2 variants resulting in dominant optic atrophy.
Created: 26 May 2022, 1:01 p.m. | Last Modified: 26 May 2022, 1:01 p.m.
Panel Version: 1.125

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: ACO2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Infantile cerebellar-retinal degeneration, 614559 (3); Mode of inheritance: Autosomal recessive
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
  • Infantile cerebellar-retinal degeneration, 614559
OMIM
100850
Clinvar variants
Variants in ACO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2022, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ACO2 were set to 30847515

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACO2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ACO2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ACO2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACO2. 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: ACO2 was added gene: ACO2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACO2 was set to