Predominantly Antibody Deficiency
Gene: OAS1
Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: LiteratureCreated: 12 Jan 2020, 2:05 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 infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia 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 Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 29455859 Phenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia Review for gene: OAS1 was set to GREEN