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  2. Defects of intrinsic and innate immunity
  3. TLR8
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Defects of intrinsic and innate immunity

Gene: TLR8

Green List (high evidence)
TLR8 (toll like receptor 8)
EnsemblGeneIds (GRCh38): ENSG00000101916
EnsemblGeneIds (GRCh37): ENSG00000101916
OMIM: 300366, Gene2Phenotype
TLR8 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

TLR signaling pathway deficiency with bacterial susceptibility. Mainly mosaic and gain of function is mechanism of disease
Sources: Expert list
Created: 16 Dec 2024, 6:45 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Dec 2024, 6:45 a.m.

Panel version: 1.14

Details

Mode of Inheritance
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
OMIM
300366
Clinvar variants
Variants in TLR8
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tlr8 has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tlr8 has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: TLR8 was added gene: TLR8 was added to Defects of innate immunity. Sources: Expert list 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 33512449; 34981838 Phenotypes for gene: TLR8 were set to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Mode of pathogenicity for gene: TLR8 was set to Other Review for gene: TLR8 was set to GREEN gene: TLR8 was marked as current diagnostic