Ataxia - paediatric
Gene: ACO2EnsemblGeneIds (GRCh38): ENSG00000100412
EnsemblGeneIds (GRCh37): ENSG00000100412
OMIM: 100850, Gene2Phenotype
ACO2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.
Sources: Expert listCreated: 27 Dec 2019, 3:59 a.m. | Last Modified: 12 Sep 2020, 1:24 a.m.
Panel Version: 0.225
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile cerebellar-retinal degeneration, MIM#614559
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- GeneReviews
- Phenotypes
-
- Infantile cerebellar-retinal degeneration, MIM#614559
- OMIM
- 100850
- Clinvar variants
- Variants in ACO2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aco2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACO2 was added gene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration