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| Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ4 | 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 | COQ4 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ4. Tag Q3_23_NHS_review was removed from gene: COQ4. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ4 | Eleanor Williams reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | COQ4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4. Source NHS GMS was added to COQ4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.21 | COQ4 | Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.21 | COQ4 | 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 v3.21 | COQ4 | Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ4. Tag Q3_23_NHS_review tag was added to gene: COQ4. |
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| Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 | Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed publications to: 28472853, 26185144, 25658047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 |
Achchuthan Shanmugasundram gene: COQ4 was added gene: COQ4 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Review for gene: COQ4 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 COQ4). Literature review revealed only one patient who had displayed lethal rhabdomyolysis but importantly this individual only harboured a single heterozygous c.483 G >C (p.E161D) variant in COQ4 (PMID: 28472853) Sources: Expert list, Expert Review |
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