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  2. Defects of intrinsic and innate immunity
  3. OAS1
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Defects of intrinsic and innate immunity

Gene: OAS1

Red List (low evidence)
OAS1 (2'-5'-oligoadenylate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000089127
EnsemblGeneIds (GRCh37): ENSG00000089127
OMIM: 164350, Gene2Phenotype
OAS1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with MIS-C with a homozygous LoF (p.Arg47*) variant and a supporting in vitro functional assay.
Sources: Expert list
Created: 16 Dec 2024, 12:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem inflammatory syndrome in children and adults MONDO:0035375

Publications

Created: 16 Dec 2024, 12:17 a.m.

Panel version: 0.170

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Multisystem inflammatory syndrome in children and adults MONDO:0035375
OMIM
164350
Clinvar variants
Variants in OAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: oas1 has been classified as Red List (Low Evidence).

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OAS1 was added gene: OAS1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: OAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAS1 were set to 36538032 Phenotypes for gene: OAS1 were set to Multisystem inflammatory syndrome in children and adults MONDO:0035375 Review for gene: OAS1 was set to RED