| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Marked gene: ATP2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Classified gene: ATP2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.2 | ATP2A1 |
Bryony Thompson gene: ATP2A1 was added gene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 32040565 Phenotypes for gene: ATP2A1 were set to Brody myopathy MIM#601003 Review for gene: ATP2A1 was set to AMBER Added comment: In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions. Sources: Literature |
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