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Newborns main panel

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: 0.499
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
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: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 83 recessive loss of function
OMIM
603029
Clinvar variants
Variants in TLR3
Penetrance
None
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 recessive loss of function

31 Dec 2025, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TLR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

31 Dec 2025, Gel status: 3

Set mode of pathogenicity, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene TLR3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Immunodeficiency 83 dominant negative for gene: TLR3

31 Dec 2025, Gel status: 3

Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene TLR3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Immunodeficiency 83 dominant loss of function for gene: TLR3

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TLR3 was added gene: TLR3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TLR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TLR3 were set to Immunodeficiency 83 recessive loss of function