Mitochondrial disease
Gene: COQ8A

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

32337771

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 2:47 a.m.
Last Modified: 4 May 2022, 2:47 a.m.
Panel version: Imported from Mendeliome panel version 0.13679

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green

Tags

treatable

OMIM

606980

Clinvar variants

Variants in COQ8A

Penetrance

None

Panels with this gene

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.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ8A was added gene: COQ8A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: COQ8A was set to Unknown

Mitochondrial disease Gene: COQ8A