Rhabdomyolysis and metabolic muscle disorders
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 tagCreated: 16 Oct 2023, 8:38 p.m. | Last Modified: 16 Oct 2023, 8:38 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, 5:19 p.m. | Last Modified: 23 Aug 2023, 5:19 p.m.
Panel Version: 3.23
Sources: Expert list, Expert ReviewCreated: 23 Aug 2023, 5:18 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, MONDO:0010788; myoglobinuria, MONDO:0000866
Publications
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Tag gene-checked tag was added to gene: MT-CO1.
Tag Q3_23_promote_green was removed from gene: MT-CO1. Tag Q3_23_NHS_review was removed from gene: MT-CO1.
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)
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Phenotypes for gene: MT-CO1 were changed from Leber hereditary optic neuropathy; Myoglobinuria to Leber hereditary optic neuropathy, MONDO:0010788; myoglobinuria, MONDO:0000866
Gene: mt-co1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: MT-CO1. Tag Q3_23_NHS_review tag was added to gene: MT-CO1.
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