Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Marked gene: RRM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Publications for gene: RRM2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | RRM2B |
Bryony Thompson gene: RRM2B was added gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 |