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Inborn errors of metabolism

Gene: STAT2

Amber List (moderate evidence)

STAT2 (signal transducer and activator of transcription 2)
EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 7 panels

7 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that the majority of cases will be presenting in the context of overwhelming infection. The raised lactate and encephalomyopathy are potentially relevant phenotypes for this panel, however more evidence is needed on how common this presentation is, and whether it is always clearly associated with a proven infection.
Created: 26 Sep 2019, 2:16 p.m. | Last Modified: 26 Sep 2019, 2:16 p.m.
Panel Version: 1.287
Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel.
Created: 1 Aug 2019, 2:11 p.m. | Last Modified: 1 Aug 2019, 2:11 p.m.
Panel Version: 1.75

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Potential differential diagnosis for mitochondrial disorder, with encephalopathy, elevated lactate, elongated mitochondria
Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Immunodeficiency 44, 616636

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Red - not considered a primary mitochondrial disorder, but there is a possible link to mitochondrial fission; phenotype doesn't fit mito disease.
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Immunodeficiency 44, 616636

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green based on expert reviews. STAT2 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with different variants in this gene.
Created: 3 May 2019, 10:03 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 3 families reported in the literature.
Created: 1 Sep 2018, 4:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 44, MIM#616636

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 2 siblings, and one unrelated case and supporting functional evidence - placed in the red list as more evidence required for this to be a diagnostic-grade gene.
Created: 15 Feb 2016, 5:36 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

mitochondrial fission defect
Created: 7 Feb 2016, 10:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 44 616636
  • elongated mitochondria
  • severe neurological deterioration following viral infection
OMIM
600556
Clinvar variants
Variants in STAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: stat2 has been classified as Amber List (Moderate Evidence).

1 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: stat2 has been classified as Red List (Low Evidence).

1 Aug 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: STAT2 were changed from elongated mitochondria; severe neurological deterioration following viral infection to Immunodeficiency 44 616636; elongated mitochondria; severe neurological deterioration following viral infection

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: STAT2 was added gene: STAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to PMID: 26122121 Phenotypes for gene: STAT2 were set to elongated mitochondria; severe neurological deterioration following viral infection