Genomics England
GMS Panels
Panels
Genes and Entities

RAC2

Rac family small GTPase 2
OMIM: 602049
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
T-B- SCID, T-B+ SCID, Neutrophil immunodeficiency syndrome 608203, Neutrophil immunodeficiency syndrome, RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2), Poor wound healing, leukocytosis, Congenital defects of phagocyte number or function, Reticular dysgenesis, Recurrent sinopulmonary infections, selective IgA defiency, poststreptococcal glomerulonephritis, urticaria