Genomics England
GMS Panels
Panels
Genes and Entities

CSF2RB

colony stimulating factor 2 receptor beta common subunit
OMIM: 138981
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 5, 614370, Alveolar proteinosis, Congenital defects of phagocyte number or function
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370