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Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Marked gene: STAC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Classified gene: STAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Malignant Hyperthermia Susceptibility v0.7 | STAC3 |
Bryony Thompson gene: STAC3 was added gene: STAC3 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 30168660; 32898259 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch MIM#255995 Review for gene: STAC3 was set to GREEN Added comment: The rarest cause of malignant hyperthermia susceptibility. Currently, MHS has only been identified with the biallelic cases with myopathy. Pathogenic variants impair skeletal muscle excitation–contraction coupling. Sources: Expert list |