Genomics England
GMS Panels
Panels
Genes and Entities

OAS1

2'-5'-oligoadenylate synthetase 1
OMIM: 164350
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammatory Disorders, Pulmonary alveolar proteinosis, Recurrent fever, Dermatitis, Inflammatory bowel disease, Hypogammaglobulinemia