This Panel is marked as Internal
Disseminated non-tuberculous mycobacterial infection
Gene: STAT1
STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mendelian Susceptibility to Mycobacterial Diseases (MSMD)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Mendelian Susceptibility to Mycobacterial Diseases (MSMD)
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Familial diabetes
- Monogenic diabetes
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
14 Mar 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)STAT1 was added to Disseminated non-tuberculous mycobacterial infectionpanel. Sources: Literature
14 Mar 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)STAT1 was created by ellenmcdonagh