OAS1

2'-5'-oligoadenylate synthetase 1
OMIM: 164350, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green OAS1 in Mendeliome


Version 2.0

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 2.0

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 2.0

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 2.0

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 3.0

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 2.0

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 1.0

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