Genomics England
GMS Panels
Panels
Genes and Entities

IL12RB1

interleukin 12 receptor subunit beta 1
OMIM: 601604
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 30, 614891, Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria and Salmonella, Defects in Intrinsic and Innate Immunity