Activity
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6 actions
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| Mendeliome v1.2209 | RNASEL | Bryony Thompson Marked gene: RNASEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2209 | RNASEL | Bryony Thompson Gene: rnasel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2209 | RNASEL | Bryony Thompson Classified gene: RNASEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2209 | RNASEL | Bryony Thompson Gene: rnasel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2208 | RNASEL |
Bryony Thompson gene: RNASEL was added gene: RNASEL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEL were set to 36538032; 9351818 Phenotypes for gene: RNASEL were set to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Review for gene: RNASEL was set to AMBER Added comment: A single case reported with a homozygous variant reported and a supporting null mouse model. Sources: Literature |
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| Mendeliome v1.1922 | OAS2 |
Zornitza Stark gene: OAS2 was added gene: OAS2 was added to Mendeliome. Sources: Literature 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 Review for gene: OAS2 was set to GREEN Added comment: 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. Functional data. Sources: Literature |
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