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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
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