Genomics England
GMS Panels
Panels
Genes and Entities

IRF8

interferon regulatory factor 8
OMIM: 601565
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, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893, Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990, Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria, Defects in Intrinsic and Innate Immunity, Susceptibility to mycobacteria and multiple other infectious agents