Likely inborn error of metabolism - targeted testing not possible
Gene: STAT2Comment 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
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 Amber List (Moderate Evidence).
Gene: stat2 has been classified as Red List (Low Evidence).
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
Sarah Leigh: Associated with phenotype in O
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