COVID-19 researchGene: OAS1
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
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.
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Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Infantile-Onset Pulmonary Alveolar Proteinosis; Hypogammaglobulinemia.
IUIS: Inheritance - AD GOF
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
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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.
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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)
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