Genomics England
GMS Panels
Panels
Genes and Entities

TLR8

toll like receptor 8
OMIM: 300366
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Immunodeficiency 98 with autoinflammation, X-linked, OMIM:301078