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Autoinflammatory Disorders v0.146 TLR8 Zornitza Stark Publications for gene: TLR8 were set to 34981838
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.144 TLR8 Zornitza Stark reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33512449; Phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.130 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Marked gene: TLR8 as ready
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Classified gene: TLR8 as Red List (low evidence)
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres reviewed gene: TLR8: Rating: RED; Mode of pathogenicity: None; Publications: 34981838; Phenotypes: Severe autoimmune hemolytic anemia and autoinflammation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres Deleted their review
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres changed review comment from: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature; to: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres gene: TLR8 was added
gene: TLR8 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 34981838
Phenotypes for gene: TLR8 were set to Severe autoimmune hemolytic anemia and autoinflammation
Review for gene: TLR8 was set to AMBER
Added comment: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature