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| Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ8A | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ8A |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ8A. Tag Q3_23_NHS_review was removed from gene: COQ8A. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ8A | Eleanor Williams reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | COQ8A |
Achchuthan Shanmugasundram Source Expert Review Green was added to COQ8A. Source NHS GMS was added to COQ8A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.28 | COQ8A | Achchuthan Shanmugasundram Classified gene: COQ8A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.28 | COQ8A | Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.28 | COQ8A | Achchuthan Shanmugasundram Gene: coq8a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.27 | COQ8A |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ8A. Tag Q3_23_NHS_review tag was added to gene: COQ8A. |
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| Rhabdomyolysis and metabolic muscle disorders v3.27 | COQ8A |
Achchuthan Shanmugasundram gene: COQ8A was added gene: COQ8A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 26818466; 22036850; 18319074; 18319072; 32337771 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Review for gene: COQ8A was set to GREEN Added comment: Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ8A/ADCK3). Variants in COQ8A cause a juvenile-onset cerebellar ataxia with primary CoQ10 deficiency. Some patients display muscle weakness and exercise intolerance (typically with elevated serum lactate) early in the course of disease but it is not clear if this is associated with rhabdomyolysis although this may be plausible following physical exertion. PMID:32337771 reported a cohort of 59 individuals with 44 pathogenic COQ8A variants and presenting with 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. Sources: Expert list, Expert Review |
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