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  3. STAC3
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Malignant hyperthermia

Gene: STAC3

Green List (high evidence)
STAC3 (SH3 and cysteine rich domain 3)
EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 1:53 p.m. | Last Modified: 16 Feb 2022, 1:53 p.m.
Panel Version: 0.4
Created: 16 Feb 2022, 1:53 p.m.
Last Modified: 16 Feb 2022, 1:53 p.m.
Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia
  • Myopathy, congenital, Baily-Bloch, OMIM:255995
OMIM
615521
Clinvar variants
Variants in STAC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to STAC3.

11 Jan 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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