Multi-organ autoimmune diabetes
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
3 reviews
Owen Siggs (Flinders University)
Gain of function variants leading to variable autoimmune manifestations including T1DM.Created: 18 Jan 2020, 6:49 a.m. | Last Modified: 18 Jan 2020, 6:49 a.m.
Panel Version: 1.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Mode of pathogenicity
Other
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted due to expert review.Created: 22 Jul 2016, 3:11 p.m.
Sian Ellard (University of Exeter Medical School)
Gain of functionCreated: 8 Dec 2015, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Other - 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, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Neonatal Diabetes
- 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
-
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Neonatal diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial Meniere Disease
- Haematological malignancies cancer susceptibility
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Monogenic diabetes
- Familial pulmonary fibrosis
- COVID-19 research
- Familial diabetes
- Severe multi-system atopic disease with high IgE
- Haematological malignancies for rare disease
- Multi-organ autoimmune diabetes
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: STAT3 were set to
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
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
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 Other - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)STAT3 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN