Rhabdomyolysis and Metabolic Myopathy

Gene: COQ8A

Green List (high evidence)

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

2 reviews

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

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exercise intolerance is a presenting feature in 25% of cases (out of 59 total).
Sources: Expert list
Created: 29 May 2020, 12:36 a.m.

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
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4 MIM#612016
Tags
treatable
OMIM
606980
Clinvar variants
Variants in COQ8A
Penetrance
None
Publications
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.

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coq8a has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coq8a has been classified as Green List (High Evidence).

29 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: COQ8A was added gene: COQ8A was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 32337771 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016 Review for gene: COQ8A was set to GREEN gene: COQ8A was marked as current diagnostic