Retinal disorders
Gene: ACO2EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 11 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The 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
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 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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Richard Scott (Genomics England Curator)
Comment on list classification: This is a retinal phenotype and should be includedCreated: 29 Jun 2016, 7:58 p.m.
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Infantile cerebellar-retinal degeneration, 614559
- OMIM
- 100850
- Clinvar variants
- Variants in ACO2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Optic neuropathy
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_22_MOI was removed from gene: ACO2.
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: ACO2.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ACO2 were set to
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)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ACO2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)ACO2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ACO2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red