Genomics England
GMS Panels
Panels
Genes and Entities

STAT2

signal transducer and activator of transcription 2
OMIM: 600556
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
STAT2 deficiency, Predisposition to several viral infection, Immunodeficiency 44, 616636, Severe viral infections (disseminated vaccine-strain measles), Defects in Intrinsic and Innate Immunity