| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Marked gene: TRPV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Classified gene: TRPV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.60 | TRPV1 |
Bryony Thompson gene: TRPV1 was added gene: TRPV1 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV1 were set to 32471784 Phenotypes for gene: TRPV1 were set to Exertional heat stroke; rhabdomyolysis Review for gene: TRPV1 was set to AMBER Added comment: Two unrelated cases reported with rhabdomyolysis and supporting in vitro functional assays for the 2 missense variants. Sources: Literature |
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