Genes in panel
STRs in panel
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Primary immunodeficiency

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

5 reviews

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Immunodeficiency 44, 616636
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STAT2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to STAT2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STAT2.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene STAT2 were set to STAT2 deficiency, Predisposition to several viral infection, Immunodeficiency 44, 616636, Severe viral infections (disseminated vaccine-strain measles), Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to STAT2. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to STAT2. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: STAT2 were set to STAT2 deficiency; Predisposition to several viral infection; Immunodeficiency 44, 616636

1 May 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for STAT2 were set to 23391734; 26122121; 28087227

1 May 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 May 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for STAT2 were set to STAT2 deficiency; Predisposition to several viral infection; Immunodeficiency 44 616636

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to STAT2. Panel: Primary immunodeficiency disorders Phenotypes for gene STAT2 were set to STAT2 deficiency, Predisposition to several viral infection

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene STAT2 were set to STAT2 deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

STAT2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

STAT2 was created by Louise Daugherty