Generalised pustular psoriasis

Gene: STAT2

Red List (low evidence)

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 9 panels

3 reviews

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

I don't know

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.

Francesca Capon (King's College London)

I don't know

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
Panels with this gene

History Filter Activity

24 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 24/11/2016

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for STAT2 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STAT2 were set to 23143594

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STAT2 were set to Immunodeficiency 44 616636

4 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STAT2 were set to 23143594

4 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STAT2 were set to 23143594

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STAT2 was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen