DEMO Diabetes neonatal onset
Gene: STAT3
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: STAT3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Neonatal diabetes and early-onset multi-organ autoimmune disease.Created: 11 Jan 2019, 4:27 p.m.
After the initial paper describing 4 patients, we have identified 3 additional patients with neonatal diabetes caused by a STAT3 mutationCreated: 29 May 2017, 8:34 a.m.
Comment when marking as ready: Marked as Ready: 29th May 2017.Created: 29 May 2017, 8:51 a.m.
Comment on list classification: Updated rating from Red to Green: Green review, marked as diagnostic by Sian Ellard. Publication plus Elisa De Franco reports >3 cases of neonatal diabetes with STAT3 mutation.Created: 29 May 2017, 8:51 a.m.
PMID:25038750 (Flanagan et al., 2014) identified a de-novo heterozygous STAT3 mutation in 1 individual with permanent neonatal diabetes (in addition to 4 individuals with polyautoimmune disease).Created: 25 Apr 2017, 3:05 p.m.
Comment on list classification: Promoted from red to green due to expert review.Created: 15 Jun 2016, 3:21 p.m.
Gain of function mutations cause neonatal diabetesCreated: 26 Oct 2015, 10:53 p.m.
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
gene: STAT3 was added gene: STAT3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 25038750 Phenotypes for gene: STAT3 were set to Neonatal diabetes and additional multi-organ autoimmunity; Neonatal diabetes and early-onset multi-organ autoimmune disease; permanent neonatal diabetes