Mitochondrial disease
Gene: STAT2

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primary immunodeficiency characterised by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion .
Created: 18 Mar 2020, 1:59 a.m. | Last Modified: 18 Mar 2020, 1:59 a.m.

Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 44, MIM# 616636

Publications

Created: 18 Mar 2020, 1:59 a.m.
Last Modified: 18 Mar 2020, 1:59 a.m.
Panel version: 0.171

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Immunodeficiency 44, MIM# 616636

OMIM

600556

Clinvar variants

Variants in STAT2

Penetrance

None

Publications

Panels with this gene