Ataxia - paediatric
Gene: COQ8A
COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms.Created: 4 May 2022, 2:47 a.m. | Last Modified: 4 May 2022, 2:47 a.m.
Panel Version: 0.13679
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4 MIM#612016
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Primary coenzyme Q10 deficiency 4, 612016
- Spinocerebellar Ataxia Type
- Coenzyme Q10 deficiency, primary 4, 612016
- Tags
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Prepair 1000+
- Dystonia - complex
- Proteinuria
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
5 Oct 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: COQ8A.
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COQ8A was added gene: COQ8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016