Likely inborn error of metabolism - targeted testing not possible
Gene: ACO2The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022Created: 26 May 2022, 1:25 p.m. | Last Modified: 26 May 2022, 1:25 p.m.
Panel Version: 2.257
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, 1:22 p.m. | Last Modified: 26 May 2022, 1:22 p.m.
Panel Version: 2.257
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 10:53 a.m.
Comment on list classification: Two reviewers agree this should be promoted from red to green.Created: 10 Feb 2016, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_22_MOI was removed from gene: ACO2.
Source NHS GMS was added to ACO2. Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_22_NHS_review was removed from gene: ACO2.
Tag Q2_22_MOI tag was added to gene: ACO2. Tag Q2_22_NHS_review tag was added to gene: ACO2.
Publications for gene: ACO2 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2
gene: ACO2 was added gene: ACO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559