Neonatal diabetes
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
4 reviews
Ivone Leong (Genomics England Curator)
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.
Elisa De Franco (University of Exeter Medical School)
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.
Rebecca Foulger (Genomics England curator)
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.
Sian Ellard (University of Exeter Medical School)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Familial diabetes
- Severe multi-system atopic disease with high IgE
- Neonatal diabetes
- Haematological malignancies for rare disease
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Familial Meniere Disease
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to STAT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Rebecca Foulger (Genomics England curator)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.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for STAT3 were set to Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for STAT3 were set to 25038750
Added New Source
Ellen McDonagh (Genomics England Curator)STAT3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)STAT3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN