Genomics England
GMS Panels
Panels
Genes and Entities

IFNGR1

interferon gamma receptor 1
OMIM: 107470
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 27A, (AR) 209950, Immunodeficiency 27B, (AD) 615978, Mycobacteriosis, Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria and Salmonella, Defects in Intrinsic and Innate Immunity