Generalised pustular psoriasis
Gene: STAT2

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 8 panels

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

I don't know

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported for Immunodeficiency 44 616636. Association with psoriasis via GWAS study.
Created: 4 Nov 2016, 3:40 p.m.

Comment on publications: Association with psoriasis via GWAS
Created: 4 Nov 2016, 3:38 p.m.

Comment on publications: STAT2 deficiency (Hambleton (2013) Proc Natl Acad Sci USA 110,3053); Autism (Neale (2012) Nature 485, 242); Psoriasis susceptibility, association with (Tsoi (2012) Nat Genet 44, 1341)
Created: 4 Nov 2016, 3:30 p.m.

Created: 4 Nov 2016, 3:30 p.m.

Panel version: 0.43

Francesca Capon (King's College London)

I don't know

Created: 15 Dec 2015, 9:32 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Immunodeficiency 44 616636

OMIM

600556

Clinvar variants

Variants in STAT2

Penetrance

Complete

Publications

23143594

Panels with this gene