Retinal disorders
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: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
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, 1:26 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
Comment on list classification: This is a retinal phenotype and should be includedCreated: 29 Jun 2016, 7:58 p.m.
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
Tag Q2_22_MOI was removed from gene: 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_MOI tag was added to gene: ACO2.
Publications for gene: ACO2 were set to
Source NHS GMS was added to ACO2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for ACO2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ACO2 was created by ellenmcdonagh
ACO2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red