Possible mitochondrial disorder - nuclear genes
Gene: STAT2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 44, 616636
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 was added gene: STAT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT2 were set to Immunodeficiency 44, 616636