This Panel is marked as Internal
DEMO Diabetes neonatal onset
Gene: STAT3
STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
5 reviews
Ivone Leong (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review.Created: 15 Jun 2016, 3:21 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
-
- UKGTN
- Eligibility statement prior genetic testing
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Neonatal diabetes and additional multi-organ autoimmunity
- Neonatal diabetes and early-onset multi-organ autoimmune disease
- permanent neonatal diabetes
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
- Familial Meniere Disease
- Haematological malignancies cancer susceptibility
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial pulmonary fibrosis
- Neonatal diabetes
- Monogenic diabetes
- COVID-19 research
- Severe multi-system atopic disease with high IgE
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Haematological malignancies for rare disease
- Familial diabetes
- Multi-organ autoimmune diabetes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
History Filter Activity
2 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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