| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.168 | AARS2 |
Sangavi Sivagnanasundram gene: AARS2 was added gene: AARS2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 21549344; 25058219 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8 MIM#614096 Review for gene: AARS2 was set to GREEN Added comment: PMID: 21549344 2 Individuals with infantile mitochondrial HCM and lactic acidosis as well as a severe COX deficiency PMID: 25058219 5 individuals from unrelated families with a mutation in AARS and phenotypic features of cardiomyopathy but only 3 individuals presented with lactic acidosis. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||