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| COVID-19 research v0.93 | RC3H1 | Sarah Leigh Classified gene: RC3H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.93 | RC3H1 |
Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (lasted edited 01/27/2017) or in Gen2Phen. PMID 31636267 reports a biallelic nonsense variant (p.R688*), in a case with immune dysregulation syndrome characterized by severe hyperinflammation in a consanguineous family. The association of this variant with the phenotype is supported by functional studies and mouse model (PMID 15917799). |
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| COVID-19 research v0.93 | RC3H1 | Sarah Leigh Gene: rc3h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.92 | RC3H1 | Sarah Leigh Publications for gene: RC3H1 were set to PMID: 31636267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.36 | RC3H1 |
Ellen McDonagh gene: RC3H1 was added gene: RC3H1 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to PMID: 31636267 Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis |
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