Mitochondrial disorders
Gene: STAT2EnsemblGeneIds (GRCh38): ENSG00000170581
EnsemblGeneIds (GRCh37): ENSG00000170581
OMIM: 600556, Gene2Phenotype
STAT2 is in 8 panels
7 reviews
Sarah Leigh (Genomics England Curator)
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, 2:14 p.m. | Last Modified: 1 Aug 2019, 2:14 p.m.
Panel Version: 1.419
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Potential differential diagnosis for mitochondrial disorder, with encephalopathy, elevated lactate, elongated mitochondriaCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Immunodeficiency 44, 616636
Carl Fratter (Oxford University Hospitals NHS Trust)
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)
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)
mitochondrial fission defectCreated: 7 Feb 2016, 10:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- severe neurological deterioration following viral infection
- elongated mitochondria
- Immunodeficiency 44, 616636
- OMIM
- 600556
- Clinvar variants
- Variants in STAT2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: stat2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: stat2 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: STAT2 were changed from severe neurological deterioration following viral infection; elongated mitochondria to severe neurological deterioration following viral infection; elongated mitochondria; Immunodeficiency 44, 616636
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: STAT2 were set to PMID: 26122121
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to STAT2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Shamima Rahman (UCL Institute of Child Health)STAT2 was created by [email protected]
Added New Source
Shamima Rahman (UCL Institute of Child Health)STAT2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list