Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: OAS1

Amber List (moderate 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)

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 Amber
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • Pulmonary alveolar proteinosis
  • Recurrent fever
  • Dermatitis
  • Inflammatory bowel disease
  • Hypogammaglobulinemia
Tags
for-review
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

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