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  3. OAS1
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Predominantly Antibody Deficiency

Gene: OAS1

Green List (high evidence)
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)

Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Created: 12 Jan 2020, 2:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

Publications

Created: 12 Jan 2020, 2:05 a.m.

Panel version: 0.109

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
OMIM
164350
Clinvar variants
Variants in OAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OAS1 were changed from infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042

12 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oas1 has been classified as Green List (High Evidence).

12 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oas1 has been classified as Green List (High Evidence).

12 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OAS1 was added gene: OAS1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 29455859 Phenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia Review for gene: OAS1 was set to GREEN