Genomics England
GMS Panels
Panels
Genes and Entities

ITGB2

integrin subunit beta 2
OMIM: 600065
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
Leukocyte adhesion deficiency, 116920, LAD, Leukocyte adhesion deficiency type I, Delayed cord separation, skin ulcers, periodontitis, leukocytosis, Congenital defects of phagocyte number or function