OAS1

2'-5'-oligoadenylate synthetase 1
OMIM: 164350, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green OAS1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory immunodeficiency
  • infantile-onset pulmonary alveolar proteinosis
  • hypogammaglobulinaemia

Green OAS1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

Green OAS1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

Green OAS1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 0.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

    Green OAS1 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

    Green OAS1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
    Tags
    • treatable
    • immunological

    Green OAS1 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of ectonucleotide and nucleic acid metabolism
    • pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840