Rhabdomyolysis and metabolic muscle disorders
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 tagCreated: 16 Oct 2023, 8:40 p.m. | Last Modified: 16 Oct 2023, 8:40 p.m.
Panel Version: 3.37
The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:42 a.m.
Panel Version: 3.37
Mode of inheritance
MITOCHONDRIAL
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.Created: 23 Aug 2023, 5:29 p.m. | Last Modified: 23 Aug 2023, 5:29 p.m.
Panel Version: 3.25
Sources: Expert list, Expert ReviewCreated: 23 Aug 2023, 5:28 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866
Publications
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Tag gene-checked tag was added to gene: MT-CO2.
Tag Q3_23_promote_green was removed from gene: MT-CO2. Tag Q3_23_NHS_review was removed from gene: MT-CO2.
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)
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Tag Q3_23_promote_green tag was added to gene: MT-CO2. Tag Q3_23_NHS_review tag was added to gene: MT-CO2.
Gene: mt-co2 has been classified as Amber List (Moderate Evidence).
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