| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.69 | TAZ | Zornitza Stark Marked gene: TAZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.69 | TAZ | Zornitza Stark Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.48 | TAZ | Bryony Thompson Classified gene: TAZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.48 | TAZ | Bryony Thompson Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.47 | TAZ |
Bryony Thompson gene: TAZ was added gene: TAZ was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 26845103 Phenotypes for gene: TAZ were set to Barth syndrome MIM#302060 Review for gene: TAZ was set to GREEN Added comment: Exercise intolerance is a prominent feature of the condition. Sources: Expert list |
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| Rhabdomyolysis and Metabolic Myopathy v0.0 | SCN4A |
Bryony Thompson gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500 |
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