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COVID-19 research

Gene: OAS1

Green List (high evidence)
OAS1 (2'-5'-oligoadenylate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000089127
EnsemblGeneIds (GRCh37): ENSG00000089127
OMIM: 164350, Gene2Phenotype
OAS1 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found 3 rare variants p.Arg47Gln, p.Ile99Val and p.Arg130His. p.Arg47Gln is predicted to be benign/tolerated by PolyPhen-2, SIFT and MutPred2 algorithms while the other two are possibly damaging.
Created: 22 May 2020, 10:27 a.m. | Last Modified: 22 May 2020, 10:27 a.m.
Panel Version: 0.302

Publications

  • https://doi.org/10.1101/2020.05.13.093690

Created: 22 May 2020, 10:27 a.m.
Last Modified: 22 May 2020, 10:27 a.m.
Panel version: 0.302

Sophie Hambleton (Newcastle University)

IUIS gene, known role in antiviral innate immunity and important to the function of alveolar macrophages
Created: 1 May 2020, 11:22 a.m. | Last Modified: 1 May 2020, 11:22 a.m.
Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Infantile-Onset Pulmonary Alveolar Proteinosis; Hypogammaglobulinemia.

Created: 1 May 2020, 11:22 a.m.
Last Modified: 1 May 2020, 11:22 a.m.
Panel version: 0.171

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AD GOF
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103
Created: 15 Apr 2020, 12:09 p.m.
Last Modified: 15 Apr 2020, 12:09 p.m.
Panel version: 0.103

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042
OMIM
164350
Clinvar variants
Variants in OAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: OAS1 were changed from OAS1 GOF; Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to OAS1. Added phenotypes OAS1 GOF; Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash for gene: OAS1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: OAS1 was added gene: OAS1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OAS1 were set to 32086639; 29455859; 32048120 Phenotypes for gene: OAS1 were set to OAS1 GOF; Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash