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DDG2P

Gene: ACO2

Green List (high evidence)
ACO2 (aconitase 2)
EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 11 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 29564393;29577077;31106992;22405087;28545339).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Sarah Leigh (Genomics England Curator)

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 2022
Created: 26 May 2022, 1:26 p.m. | Last Modified: 26 May 2022, 1:26 p.m.
Panel Version: 2.73
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, 1:23 p.m. | Last Modified: 26 May 2022, 1:23 p.m.
Panel Version: 2.73

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 26 May 2022, 1:23 p.m.
Last Modified: 26 May 2022, 1:23 p.m.
Panel version: 2.73

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ACO2. Mode of inheritance for gene ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were updated from 22405087; 34056600 to 28545339; 29577077; 29564393; 22405087; 34056600; 31106992 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 May 2022, Gel status: 2

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: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ACO2 were set to 22405087

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACO2 was added gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 22405087 Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559