ARPC1B

actin related protein 2/3 complex subunit 1B
OMIM: 604223
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718, Combined immune deficiency with or without thrombocytopenia, Inflammatory predisposition