This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Phenotypes
-
- Predisposition to Mucocutaneous Candidiasis
- Immunodeficiency 31C, autosomal dominant, MIM#614162
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Monogenic diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Familial diabetes
- COVID-19 research
- Fetal anomalies
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: STAT1 was added gene: STAT1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT1 were set to 23534974; 21714643 Phenotypes for gene: STAT1 were set to Predisposition to Mucocutaneous Candidiasis; Immunodeficiency 31C, autosomal dominant, MIM#614162