Genes in panel
STRs in panel
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COVID-19 research

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 9 panels

6 reviews

Rebecca Foulger (Genomics England curator)

https://www.biorxiv.org/content/10.1101/2020.04.23.056838v1. Mice and hamster studies show that STAT2 drives severe lung injury on the one hand, yet restricts systemic virus dissemination on the other.
Created: 28 Apr 2020, 2:59 p.m. | Last Modified: 28 Apr 2020, 2:59 p.m.
Panel Version: 0.165

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

Comment on publications: Relevant publications added.
Created: 1 May 2018, 9:32 p.m.
Comment on list classification: In OMIM STAT2 is associated with Immunodeficiency 44 (616636). Hambleton et al. (2013) (PMID: 23391734) reports 5 affected members of a consanguineous kindred with a homozygous splice site mutation in the STAT2 gene. Patient fibroblasts displayed a severe defect in their ability to respond to IFN-α which was rescued after transduction with wildtype STAT2. Shahni et al. (2015) (PMID:26122121) documents 2 siblings with IMD44 and a homozygous nonsense mutation in the STAT2 gene which segregated with the disorder in the family. In addition, Moens et al (2017) (PMID: 28087227) report 2 siblings with compound heterozygous STAT2 mutations who suffered from severe viral illnesses since infancy. Patient 2 fibroblasts showed an demonstrated absence of expression of STAT2 protein after stimulation with IFN-α. Rating as green as there are 3 independent cases of plausible disease-causing mutations plus functional evidence that the mutations cause the phenotype.
Created: 1 May 2018, 9:30 p.m.
Comment on phenotypes: Added OMIM entry
Created: 1 May 2018, 8:47 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): STAT2 .PanelApp HGNC gene symbol check: STAT2 . IUIS Disease: STAT2 deficiency . IUIS Inheritance: AR .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: T and NK cells. IUIS Associated features: Severe viral infections (disseminated vaccine-strain measles). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 2:21 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: STAT2, PanelApp HGNC gene symbol check: STAT2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Predisposition to several viral infection / Predisposition to several viral infection
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: STAT2, GRID_Gene_Symbol: STAT2, GRID_Transcript_ENS_Community submitted: ENST00000314128, GRID_Transcript_RefSeq: NM_005419.3, GRID_Transcript_ENS_used_on_Production: ENST00000314128
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 44, 616636
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes STAT2 deficiency; Predisposition to several viral infection; Severe viral infections (disseminated vaccine-strain measles); Defects in Intrinsic and Innate Immunity; Immunodeficiency 44, 616636 for gene: STAT2 Publications for gene STAT2 were updated from to 23391734; 26122121; 28087227

31 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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