Autoinflammatory Disorders
Gene: STAT2
STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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