Nucleotide metabolism disorders
Gene: OAS1
PMID 34145065:6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinaemia.
PMID 29455859: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.Created: 21 Jun 2021, 10:49 a.m. | Last Modified: 21 Jun 2021, 10:49 a.m.
Panel Version: 0.8087
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Publications
gene: OAS1 was added gene: OAS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 29455859; 34145065 Phenotypes for gene: OAS1 were set to Disorders of ectonucleotide and nucleic acid metabolism; pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840