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| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams commented on gene: MT-CO2: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:23616164 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" 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 "MITOCHONDRIAL" following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO2. Tag Q3_23_NHS_review was removed from gene: MT-CO2. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams reviewed gene: MT-CO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | MT-CO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO2. Source NHS GMS was added to MT-CO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.35 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO2. Tag Q3_23_NHS_review tag was added to gene: MT-CO2. |
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| Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 | Achchuthan Shanmugasundram Classified gene: MT-CO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 | 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 v3.25 | MT-CO2 | Achchuthan Shanmugasundram Gene: mt-co2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.24 | MT-CO2 |
Achchuthan Shanmugasundram gene: MT-CO2 was added gene: MT-CO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Publications for gene: MT-CO2 were set to 14733964; 23616164; 25929793; 28521807 Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866 Review for gene: MT-CO2 was set to GREEN Added comment: Sources: Expert list, Expert Review |
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