Defects of intrinsic and innate immunity
Gene: STAT1EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels
2 reviews
Peter McNaughton (Queensland Children's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive; Immunodeficiency 31C, autosomal dominant, MIM# 614162; Predisposition to Mucocutaneous Candidiasis
Publications
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STAT1 was added gene: STAT1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: STAT1 was set to Unknown