Mitochondrial disorders
Gene: STAT2Comment 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
Potential differential diagnosis for mitochondrial disorder, with encephalopathy, elevated lactate, elongated mitochondriaCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Immunodeficiency 44, 616636
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
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.
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
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.
mitochondrial fission defectCreated: 7 Feb 2016, 10:47 a.m.
Gene: stat2 has been classified as Red List (Low Evidence).
Gene: stat2 has been classified as Green List (High Evidence).
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
Publications for gene: STAT2 were set to PMID: 26122121
Victorian Clinical Genetics Services was added to STAT2. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
STAT2 was created by [email protected]
STAT2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list