| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malignant hyperthermia v1.1 |
Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off Panel version 1.0 has been signed off on 2022-11-30 |
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| Malignant hyperthermia v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.5 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.4 | STAC3 | Arina Puzriakova reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.4 | RYR1 | Arina Puzriakova reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.4 | CACNA1S | Arina Puzriakova reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.4 | STAC3 | Arina Puzriakova Source NHS GMS was added to STAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.3 | RYR1 | Arina Puzriakova Source NHS GMS was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.2 | CACNA1S | Arina Puzriakova Source NHS GMS was added to CACNA1S. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.1 | STAC3 |
Arina Puzriakova gene: STAC3 was added gene: STAC3 was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 31559918; 18553514; 30168660 Phenotypes for gene: STAC3 were set to Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia; Myopathy, congenital, Baily-Bloch, OMIM:255995 |
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| Malignant hyperthermia v0.1 | CACNA1S |
Arina Puzriakova gene: CACNA1S was added gene: CACNA1S was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1S were set to 31559918; 9199552; 11260227 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, OMIM:601887 |
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| 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 |
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| Malignant hyperthermia v0.0 |
Arina Puzriakova Added Panel Malignant hyperthermia Set list of related panels to R371 Set panel types to: GMS Rare Disease |
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