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Childhood interstitial lung disease v0.5 OAS1 Achchuthan Shanmugasundram commented on gene: OAS1: OAS1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.2 OAS1 Achchuthan Shanmugasundram reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840, Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.1 OAS1 Achchuthan Shanmugasundram gene: OAS1 was added
gene: OAS1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042; pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840