Defects of intrinsic and innate immunity
Gene: OAS2EnsemblGeneIds (GRCh38): ENSG00000111335
EnsemblGeneIds (GRCh37): ENSG00000111335
OMIM: 603350, Gene2Phenotype
OAS2 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Functional data.Created: 2 Aug 2024, 1:43 a.m. | Last Modified: 2 Aug 2024, 1:43 a.m.
Panel Version: 0.122
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related
Publications
Peter McNaughton (Queensland Children's Hospital)
3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C. Similar presentation to OAS1 and RNASEL.
Sources: LiteratureCreated: 29 Jul 2024, 5:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MIS-C
Publications
- PMID: 36538032
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Phenotypes
-
- Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related
- OMIM
- 603350
- Clinvar variants
- Variants in OAS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oas2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OAS2 was added gene: OAS2 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAS2 were set to 36538032 Phenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related