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| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams commented on gene: MT-CO1: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:25929793 to make sure it is the same gene listed in the publication as on this panel. The gene name in this publication is COX1 but this is an alias name for MT-CO1(https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419) , and therefore it is likely this is the correct gene. Added the gene-checked tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | 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-CO1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO1. Tag Q3_23_NHS_review was removed from gene: MT-CO1. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams reviewed gene: MT-CO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | MT-CO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO1. Source NHS GMS was added to MT-CO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.35 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.26 | MT-CO1 | Achchuthan Shanmugasundram Phenotypes for gene: MT-CO1 were changed from Leber hereditary optic neuropathy; Myoglobinuria to Leber hereditary optic neuropathy, MONDO:0010788; myoglobinuria, MONDO:0000866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO1 | Achchuthan Shanmugasundram edited their review of gene: MT-CO1: Changed phenotypes to: Leber hereditary optic neuropathy, MONDO:0010788, myoglobinuria, MONDO:0000866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.23 | MT-CO1 | Achchuthan Shanmugasundram Classified gene: MT-CO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.23 | MT-CO1 | 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 v3.23 | MT-CO1 | Achchuthan Shanmugasundram Gene: mt-co1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.22 | MT-CO1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO1. Tag Q3_23_NHS_review tag was added to gene: MT-CO1. |
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| Rhabdomyolysis and metabolic muscle disorders v3.22 | MT-CO1 |
Achchuthan Shanmugasundram gene: MT-CO1 was added gene: MT-CO1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 10980727; 25929793 Phenotypes for gene: MT-CO1 were set to Leber hereditary optic neuropathy; Myoglobinuria Review for gene: MT-CO1 was set to GREEN Added comment: Sources: Expert list, Expert Review |
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