Malignant Hyperthermia Susceptibility
Gene: STAC3EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 6 Oct 2020, 7:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch MIM#255995
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myopathy, congenital, Baily-Bloch MIM#255995
- OMIM
- 615521
- Clinvar variants
- Variants in STAC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: stac3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: stac3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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