Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
2 reviews
Neil shah (GOSH)
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Missense variants reported in OMIM for Autoimmune disease, multisystem, infantile-onset, 1 cases.Created: 13 Oct 2016, 2:42 p.m.
Comment on list classification: Promoted from red to green due to expert review. Multiple case reports for autoimmune disease, multisystem, infantile-onset, 1 in OMIM.Created: 13 Oct 2016, 2:40 p.m.
Comment on mode of pathogenicity: Gain of function - Flanagan SE, Haapaniemi E, Russell MA, et al . Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet 2014;46(8):812-814.Created: 12 May 2016, 1:11 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autoimmune disease, multisystem, infantile-onset, 1
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - 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
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1
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
Created
Ellen McDonagh (Genomics England Curator)STAT3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STAT3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list