Genomics England
GMS Panels
Panels
Genes and Entities

RFX5

regulatory factor X5
OMIM: 601863
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bare lymphocyte syndrome, type II, complementation group C, Bare lymphocyte syndrome, type II, complementation group E, HLA class II deficiency, Combined immunodeficiency, Bare lymphocyte syndrome (MHC class II deficiency), Respiratory and gastrointestinal infections, liver/biliary tract disease, Immunodeficiencies affecting cellular and humoral immunity