Genomics England
GMS Panels
Panels
Genes and Entities

RFXANK

regulatory factor X associated ankyrin containing protein
OMIM: 603200
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
MHC class II deficiency, complementation group B, OMIM:209920, HLA class II deficiency, Respiratory and gastrointestinal infections, liver/biliary tract disease, Immunodeficiencies affecting cellular and humoral immunity