| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Classified gene: AGK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.168 | AGK |
Sangavi Sivagnanasundram gene: AGK was added gene: AGK was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 22284826 Phenotypes for gene: AGK were set to Sengers Syndrome (MIM#212350; MONDO:0008922) Review for gene: AGK was set to GREEN Added comment: Mitochondrial disorder with typical features such as hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis PMID: 22284826 Predicted LoF variants in 10 individuals from unrelated families > 5 individuals with confirmed combined respiratory-chain-complex deficiency in muscle tissue as well as lactic acidosis. Sources: Other |
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