| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Classified gene: CACNA1S as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pharmacogenomics_Paediatric v0.22 | CACNA1S |
Zornitza Stark gene: CACNA1S was added gene: CACNA1S was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1S were set to 30499100 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887 Review for gene: CACNA1S was set to GREEN Added comment: Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence. Sources: Expert list |
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