Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33820833;28411587;30168660;28777491;33060286).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995
OMIM
615521
Clinvar variants
Variants in STAC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STAC3 was added gene: STAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28777491; 33820833; 30168660; 33060286; 28411587 Phenotypes for gene: STAC3 were set to STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995