Genomics England
GMS Panels
Panels
Genes and Entities

CSF2RA

colony stimulating factor 2 receptor alpha subunit
OMIM: 306250, 425000
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary 4, 300770, Congenital pulmonary alveolar proteinosis, hypersensitivity, Pulmonary alveolar proteinosis, 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, 4, OMIM:300770