Genomics England

colony stimulating factor 2 receptor beta common 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, 5, OMIM:614370, surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712
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, 5, 614370, 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, 5, OMIM:614370