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Retinal disorders

Gene: ACO2

Green List (high evidence)

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

4 reviews

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: 2.274
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, 1:24 p.m. | Last Modified: 26 May 2022, 1:24 p.m.
Panel Version: 2.274

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: This is a retinal phenotype and should be included
Created: 29 Jun 2016, 7:58 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Is a probable DD gene for INFANTILE CEREBELLAR-RETINAL DEGENERATION, and more than 3 families/cases reported in OMIM with this association.
Created: 1 Jun 2016, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INFANTILE CEREBELLAR-RETINAL DEGENERATION

History Filter Activity

26 May 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_MOI tag was added to gene: ACO2.

26 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ACO2 were set to

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACO2. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACO2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACO2 was created by ellenmcdonagh