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| 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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| Disorders of immune dysregulation v0.138 | TLR7 | Zornitza Stark Marked gene: TLR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.138 | TLR7 | Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.138 | TLR7 | Zornitza Stark Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.137 | TLR7 | Zornitza Stark Classified gene: TLR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.137 | TLR7 | Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.136 | TLR7 |
Zornitza Stark gene: TLR7 was added gene: TLR7 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TLR7 were set to 35477763 Phenotypes for gene: TLR7 were set to Systemic lupus erythematosus 17, MIM# 301080 Review for gene: TLR7 was set to GREEN Added comment: XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model. Sources: Expert list |
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