Genomics England
GMS Panels
Panels
Genes and Entities

ARPC1B

actin related protein 2/3 complex subunit 1B
OMIM: 604223
PanelMode of inheritanceDetails
2 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718, Combined immune deficiency with or without thrombocytopenia, Inflammatory predisposition