This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
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
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Unlikely to present with coarse facial features. Usually presents with immune deficiency in early infancyCreated: 24 Nov 2016, 9:54 a.m.
Alice Gardham (North West Thames Genetics)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Job Hyper IgE recurrent infection
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- Familial Meniere Disease
- Haematological malignancies cancer susceptibility
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial pulmonary fibrosis
- Monogenic diabetes
- COVID-19 research
- Familial diabetes
- Severe multi-system atopic disease with high IgE
- Neonatal diabetes
- Haematological malignancies for rare disease
- Multi-organ autoimmune diabetes
History Filter Activity
24 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)STAT3 was created by alicegardham
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)STAT3 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN