Activity
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7 actions
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| Disorders of immune dysregulation v0.194 | UNC93B1 | Zornitza Stark Marked gene: UNC93B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.194 | UNC93B1 | Zornitza Stark Gene: unc93b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.194 | UNC93B1 | Zornitza Stark Phenotypes for gene: UNC93B1 were changed from SLE, chilblain lupus to Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.193 | UNC93B1 | Zornitza Stark Classified gene: UNC93B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.193 | UNC93B1 | Zornitza Stark Gene: unc93b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.192 | UNC93B1 | Zornitza Stark reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.186 | UNC93B1 |
Peter McNaughton gene: UNC93B1 was added gene: UNC93B1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: UNC93B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC93B1 were set to PMID: 38869500 Phenotypes for gene: UNC93B1 were set to SLE, chilblain lupus Mode of pathogenicity for gene: UNC93B1 was set to Other Review for gene: UNC93B1 was set to GREEN Added comment: Rare missense substitutions in UNC93B1 in probands from five unrelated kindreds presenting with early onset SLE (two probands) or CBL (three probands). Clinical, genetic, and functional in vitro and ex vivo data demonstrating changes in TLR7/8 signalling and trafficking. Sources: Literature |
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