Nucleotide metabolism disorders
Gene: OAS1

OAS1 (2'-5'-oligoadenylate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000089127
EnsemblGeneIds (GRCh37): ENSG00000089127
OMIM: 164350, Gene2Phenotype
OAS1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 21 Jun 2021, 10:49 a.m.
Last Modified: 21 Jun 2021, 10:49 a.m.
Panel version: Imported from Mendeliome panel version 0.14441

Details

Mode of Inheritance

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

OMIM

164350

Clinvar variants

Variants in OAS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

Nucleotide metabolism disorders Gene: OAS1