Autoinflammatory Disorders

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 males reported in PMID 33512449, 5 had mosaic variants.

X-linked immunodeficiency-98 with autoinflammation (IMD98) is characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinaemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopaenias, including neutropaenia.
Created: 23 Apr 2022, 2:27 a.m. | Last Modified: 23 Apr 2022, 2:27 a.m.
Panel Version: 0.144

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

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

Publications

Michelle Torres (Victorian Clinical Genetics Services)

Red List (low evidence)

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.
Created: 7 Jan 2022, 3:43 a.m. | Last Modified: 7 Jan 2022, 3:43 a.m.
Panel Version: 0.127

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

Phenotypes
Severe autoimmune hemolytic anemia and autoinflammation

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Autoinflammatory syndrome MONDO:0019751, TLR8-associated
OMIM
300366
Clinvar variants
Variants in TLR8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TLR8 were set to 34981838

23 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tlr8 has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tlr8 has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

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