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Primary immunodeficiency

Gene: OAS1

Green List (high evidence)

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

5 reviews

Boaz Palterer (University of Florence)

Green List (high evidence)

Thomas Magg et al. identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.
Created: 22 Jun 2021, 11:02 a.m. | Last Modified: 22 Jun 2021, 11:02 a.m.
Panel Version: 2.434

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

Phenotypes
recurrent fever; dermatitis; inflammatory bowel disease; pulmonary alveolar proteinosis; hypogammaglobulinemia.

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Additional publication identified by Boaz Palterer (PMID:34145065) supports the inclusion of this gene as Green on this panel. There are now at least 4 different gain-of-function heterozygous variants in the OAS1 gene identified in 8 unrelated families with 10 affected individuals (P5 in PMID:34145065 and C-II-1 in PMID:29455859 refer to the same individual).
Created: 29 Jun 2021, 11:12 a.m. | Last Modified: 29 Jun 2021, 11:12 a.m.
Panel Version: 2.437
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 2:41 p.m. | Last Modified: 20 Oct 2020, 2:41 p.m.
Panel Version: 2.337

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Upgraded rating from Amber to Green following advice from Helen Brittain (Genomics England Clinical Team): There appear to be three unrelated families with variants and hypogammaglobulinaemia. I think this is a relevant phenotype for immune dysfunction.
Created: 18 May 2020, 8:26 a.m. | Last Modified: 18 May 2020, 8:26 a.m.
Panel Version: 2.169
Comment on list classification: Updated from Red to Amber, awaiting clinical review.
Created: 29 Apr 2020, 8:24 p.m. | Last Modified: 29 Apr 2020, 8:24 p.m.
Panel Version: 2.138
PMID:29455859 (Cho et al. 2018) performed WES in a family with Pulmonary alveolar proteinosis (PAP) with hypogammaglobulinemia. They identified a heterozygous missense variant in OAS1 in 3 affected siblings. The mother showed mosaicism, suggesting AD inheritance from the maternal side. The authors identify 2 additional OAS1 heterozygous de novo variants in 2 unrelated individuals with PAP + hypogammaglobulinemia.
Created: 29 Apr 2020, 8:23 p.m. | Last Modified: 29 Apr 2020, 8:23 p.m.
Panel Version: 2.137

Zornitza Stark (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.
Created: 11 Apr 2020, 4:50 a.m. | Last Modified: 11 Apr 2020, 4:50 a.m.
Panel Version: 2.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • Pulmonary alveolar proteinosis
  • Recurrent fever
  • Dermatitis
  • Inflammatory bowel disease
  • Hypogammaglobulinemia
Tags
gene-checked
OMIM
164350
Clinvar variants
Variants in OAS1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: OAS1.

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: OAS1.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to OAS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OAS1 were changed from Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF to Autoinflammatory Disorders; Pulmonary alveolar proteinosis; Recurrent fever; Dermatitis; Inflammatory bowel disease; Hypogammaglobulinemia

29 Jun 2021, Gel status: 2

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: OAS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

29 Jun 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: OAS1 were set to 32086639; 29455859; 32048120

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: oas1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: OAS1.

18 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

29 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: oas1 has been classified as Amber List (Moderate Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene OAS1 were updated from 32048120; 32086639 to 32086639; 29455859; 32048120

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: OAS1 was added gene: OAS1 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: OAS1 were set to Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF