Disorders of immune dysregulation
Gene: TLR7
XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.
Sources: Expert listCreated: 12 May 2022, 8:34 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Systemic lupus erythematosus 17, MIM# 301080
Publications
Gene: tlr7 has been classified as Green List (High Evidence).
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)
Gene: tlr7 has been classified as Green List (High Evidence).
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