Haematological malignancies for rare disease
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
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: familial predisp to leukaemia (typ AD)
- paediatric large granular lymphocytic leukaemia
- Leukaemia
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- None
- Publications
-
- Cancer Gene Census
- Panels with this gene
-
- 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
- Monogenic diabetes
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial diabetes
- Severe multi-system atopic disease with high IgE
- Haematological malignancies for rare disease
- Neonatal diabetes
- Multi-organ autoimmune diabetes
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)STAT3 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)STAT3 was created by Ellen McDonagh