Genomics England
GMS Panels
Panels
Genes and Entities

BACH2

BTB domain and CNC homolog 2
OMIM: 605394
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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)