TLR8

toll like receptor 8
OMIM: 300366, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TLR8 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
  • somatic

Green TLR8 in Mendeliome


Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
  • somatic

Green TLR8 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
  • somatic

Green TLR8 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078

Green TLR8 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory syndrome MONDO:0019751, TLR8-associated