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| Malignant Hyperthermia Susceptibility v1.1 | TRPV1 | Bryony Thompson Publications for gene: TRPV1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson changed review comment from: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stress episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling.; to: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stroke episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson edited their review of gene: TRPV1: Changed phenotypes: Malignant hyperthermia susceptibility, exertional heat stroke | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson Classified gene: TRPV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.10 | TRPV1 | Bryony Thompson reviewed gene: TRPV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29930394, 32471784; Phenotypes: Malignant hyperthermia susceptibility, exertional heat stress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.6 | TRPV1 |
Bryony Thompson gene: TRPV1 was added gene: TRPV1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV1 were set to Malignant hyperthermia susceptibility |
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