Genomics England
GMS Panels
Panels
Genes and Entities

IL12B

interleukin 12B
OMIM: 161561
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
Immunodeficiency 29, mycobacteriosis, 614890, Defects with susceptibility to mycobacterial infection (MSMD), Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Susceptibility to mycobacteria and Salmonella, Defects in Intrinsic and Innate Immunity