Familial diabetes
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.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)
Activating mutations in STAT3 cause this phenotypeCreated: 16 Oct 2015, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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
- Fetal anomalies
- Haematological malignancies for rare disease
- Multi-organ autoimmune diabetes
- 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
- Monogenic diabetes
- Familial Meniere Disease
History Filter Activity
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: STAT3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for STAT3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen McDonagh (Genomics England Curator)Publications for STAT3 were set to 27167055
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()STAT3 was added to Familial diabetespanel. Sources: UKGTN