Autoinflammatory Disorders
Gene: OAS1
6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.
Sources: LiteratureCreated: 21 Jun 2021, 10:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Publications
Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Gene: oas1 has been classified as Green List (High Evidence).
Gene: oas1 has been classified as Green List (High Evidence).
gene: OAS1 was added gene: OAS1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 34145065 Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency Review for gene: OAS1 was set to GREEN