| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Malignant hyperthermia v0.4 | RYR1 | Arina Puzriakova reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.3 | RYR1 | Arina Puzriakova Source NHS GMS was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.1 | RYR1 |
Arina Puzriakova gene: RYR1 was added gene: RYR1 was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR1 were set to 31559918; 16163667; 32919876; 31737266; 33767344; 34462577 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, OMIM:145600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||