Genomics England

colony stimulating factor 2 receptor alpha subunit

Panel	Mode of inheritance	Details
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Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770, surfactant metabolism dysfunction, pulmonary, 4, MONDO:0010424
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	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 1.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770