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| Defects of intrinsic and innate immunity v0.170 | OAS1 | Bryony Thompson Marked gene: OAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.170 | OAS1 | Bryony Thompson Gene: oas1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.170 | OAS1 |
Bryony Thompson 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 Added comment: A single case with MIS-C with a homozygous LoF (p.Arg47*) variant and a supporting in vitro functional assay. Sources: Expert list |
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