Autoinflammatory Disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals from two unrelated families reported with bi-allelic GoF variants and severe auto inflammatory disease. Functional data. Note gene is already associated with other immune phenotypes.
Sources: Literature
Created: 30 Apr 2020, 7:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory disorder
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAT2 were changed from to Autoinflammatory disorder

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAT2 was added gene: STAT2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to 31836668; 32092142 Review for gene: STAT2 was set to GREEN