Rhabdomyolysis and Metabolic Myopathy
Gene: COQ8A
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
Exercise intolerance is a presenting feature in 25% of cases (out of 59 total).
Sources: Expert listCreated: 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
Tag treatable tag was added to gene: COQ8A.
Gene: coq8a has been classified as Green List (High Evidence).
Gene: coq8a has been classified as Green List (High Evidence).
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