Research panel - Severe Paediatric Disorders
Gene: ACO2

ACO2 (aconitase 2)
EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 11 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

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

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