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  2. Newborns additional phenotypes panel 2
  3. TLR3
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Newborns additional phenotypes panel 2

Gene: TLR3

Green List (high evidence)
TLR3 (toll like receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000164342
EnsemblGeneIds (GRCh37): ENSG00000164342
OMIM: 603029, Gene2Phenotype
TLR3 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (LOF and DN) and AR (LOF) forms of Immunodeficiency 83 are included.
Created: 31 Dec 2025, 2:59 p.m. | Last Modified: 31 Dec 2025, 2:59 p.m.
Panel Version: 0.31
The mechanism of pathogenicity is dominant negative (DN)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.31
PMID: 25339207 - 6 cases. PMID: 22105173
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.30
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 83 dominant negative
OMIM
603029
Clinvar variants
Variants in TLR3
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TLR3 were changed from Immunodeficiency 83 dominant loss of function; Immunodeficiency 83 dominant negative; Immunodeficiency 83 recessive loss of function to Immunodeficiency 83 dominant negative

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TLR3 was added gene: TLR3 was added to Newborns additional phenotypes panel 2. Sources: Expert Review Green Mode of inheritance for gene: TLR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TLR3 were set to Immunodeficiency 83 dominant loss of function; Immunodeficiency 83 dominant negative; Immunodeficiency 83 recessive loss of function Mode of pathogenicity for gene: TLR3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments