BACH2

BTB domain and CNC homolog 2
OMIM: 605394
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphocytic colitis, sinopulmonary infections, Diseases of Immune Dysregulation, infantile onset enterocolitis, hypogammaglobulinaemia, BACH2-related immunodeficiency and autoimmunity (BRIDA)