Genomics England
GMS Panels
Panels
Genes and Entities

RFXAP

regulatory factor X associated protein
OMIM: 601861
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 D, Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome), HLA class II deficiency, Respiratory and gastrointestinal infections, liver/biliary tract disease, Immunodeficiencies affecting cellular and humoral immunity