PanelApp
  1. Genes and Genomic Entities
  2. OAS1

OAS1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green OAS1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.2

2 reviews 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 1.3512

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 0.92

1 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 1.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Red OAS1 in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 1.20

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Multisystem inflammatory syndrome in children and adults MONDO:0035375

    Green OAS1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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