Ataxia and cerebellar anomalies - narrow panel
Gene: ACO2
The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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, 1:42 p.m. | Last Modified: 26 May 2022, 1:42 p.m.
Panel Version: 2.295
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, 1:42 p.m. | Last Modified: 26 May 2022, 1:42 p.m.
Panel Version: 2.295
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Comment on list classification: New gene added by Zornitza Stark. This gene should be promoted to Green at the next GMS panel update.
Sufficient unrelated cases to ascertain causation (see publications list). Childhood-onset ataxia often reported as a core feature of the disease presentation, particularly in milder cases. Both episodic and classic forms have been described.Created: 1 Mar 2021, 3:28 p.m. | Last Modified: 1 Mar 2021, 3:28 p.m.
Panel Version: 2.52
Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be the presenting feature.
Sources: Expert listCreated: 12 Sep 2020, 1:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, MIM#614559
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: ACO2. Tag Q2_22_MOI was removed from gene: ACO2.
Source Expert Review Green was added to 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 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_22_MOI tag was added to gene: ACO2.
Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, MIM#614559 to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Publications for gene: ACO2 were set to 32519519
Tag Q2_21_rating tag was added to gene: ACO2.
Gene: aco2 has been classified as Amber List (Moderate Evidence).
gene: ACO2 was added gene: ACO2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 32519519 Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, MIM#614559 Review for gene: ACO2 was set to GREEN gene: ACO2 was marked as current diagnostic