| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Marked gene: PHKA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Gene: phka1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Phenotypes for gene: PHKA1 were changed from Muscle glycogenosis 300559 to Muscle glycogenosis, MIM# 300559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.148 | PHKA1 | Bryony Thompson Publications for gene: PHKA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.0 | PHKA1 |
Bryony Thompson gene: PHKA1 was added gene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559 |
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