Neonatal diabetes
Gene: STAT3
Comment on phenotypes: Previous phenotypes:
Neonatal diabetes and additional multi-organ autoimmunity;permanent neonatal diabetes;Neonatal diabetes and early-onset multi-organ autoimmune diseaseCreated: 3 Mar 2021, 2:45 p.m. | Last Modified: 3 Mar 2021, 2:45 p.m.
Panel Version: 2.29
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.
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
Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes to Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease
Source NHS GMS was added to STAT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STAT3 were set to Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for STAT3 were set to 25038750
STAT3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
STAT3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN