Monogenic 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 Removed
- Phenotypes
-
- Neonatal diabetes and additional multi-organ autoimmunity
- Tags
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- None
- Publications
-
- 27167055
- Flanagan et al 2014 Nature Genetics (In press)
- 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
- Haematological malignancies for rare disease
- Multi-organ autoimmune 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
- Monogenic diabetes
- Familial Meniere Disease
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: STAT3.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to STAT3. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Neonatal diabetes and additional multi-organ autoimmunity for gene: STAT3 Publications for gene STAT3 were changed from 27167055 to 27167055; Flanagan et al 2014 Nature Genetics (In press)
Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: STAT3 was added gene: STAT3 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 27167055 Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments