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  3. OAS1
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Interstitial Lung Disease

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

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Three unrelated families reported.
Created: 6 Nov 2021, 6:39 a.m. | Last Modified: 6 Nov 2021, 6:39 a.m.
Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogammaglobinaemia; infant pulmonary alveolar proteinosis

Created: 6 Nov 2021, 6:39 a.m.
Last Modified: 6 Nov 2021, 6:39 a.m.
Panel version: 0.183

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.
Sources: Literature
Created: 21 Jun 2021, 10:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia

Publications

Mode of pathogenicity
Other

Created: 21 Jun 2021, 10:51 a.m.

Panel version: Imported from Pulmonary Fibrosis_Interstitial Lung Disease panel version 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory immunodeficiency
  • infantile-onset pulmonary alveolar proteinosis
  • hypogammaglobulinaemia
OMIM
164350
Clinvar variants
Variants in OAS1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Oct 2021, 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).

29 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OAS1 were changed from to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia

29 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OAS1 were set to

29 Oct 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: OAS1 was changed from to Other

29 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OAS1 was added gene: OAS1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OAS1 was set to Unknown