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  2. Defects of intrinsic and innate immunity
  3. STAT2
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Defects of intrinsic and innate immunity

Gene: STAT2

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

1 review

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Autosomal recessive STAT2 deficiency results in heightened susceptibility to severe and/or recurrent viral disease, whereas homozygous missense substitution of the STAT2-R148 residue is associated with severe type I interferonopathy due to loss of STAT2 negative regulation.
Created: 27 Oct 2022, 4 a.m. | Last Modified: 27 Oct 2022, 4 a.m.
Panel Version: 0.126

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to viral disease; interferonopathy

Publications

Mode of pathogenicity
Other

Created: 27 Oct 2022, 4 a.m.
Last Modified: 27 Oct 2022, 4 a.m.
Panel version: 0.126

Details

Mode of Inheritance
Unknown
Sources
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAT2 was added gene: STAT2 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: STAT2 was set to Unknown