LRBA

LPS responsive beige-like anchor protein
OMIM: 606453
PanelMode of inheritanceDetails
2 panels
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodysregulation and type 1 diabetes, Immunodeficiency, common variable, 8, with autoimmunity, 614700, IPEX-like syndrome, Neonatal diabetes and additional autoimmunity
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, 614700, Unclassified antibody deficiency, Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections, Diseases of Immune Dysregulation