ARPC1B

actin related protein 2/3 complex subunit 1B
OMIM: 604223
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia & Immune Deficiency, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718, inflammatory predisposition, Immunodeficiency with thrombocytopenia, Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching, Combined immunodeficiencies with associated or syndromic features