Genomics England
GMS Panels
Panels
Genes and Entities

OAS1

2'-5'-oligoadenylate synthetase 1
OMIM: 164350
PanelMode of inheritanceDetails
2 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042, pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042