Defects of intrinsic and innate immunity
Gene: TLR4
TLR4 (toll like receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000136869
EnsemblGeneIds (GRCh37): ENSG00000136869
OMIM: 603030, Gene2Phenotype
TLR4 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000136869
EnsemblGeneIds (GRCh37): ENSG00000136869
OMIM: 603030, Gene2Phenotype
TLR4 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The IUIS IEI committee has this gene listed as a cause of inflammatory bowel disease under the TLR Signaling Pathway Deficiency categorisation, but I cannot find any reports of Mendelian disease. There are knockout mouse models with ulcerative colitis.
Sources: Expert listCreated: 16 Dec 2024, 1:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease MONDO:0005265
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Inflammatory bowel disease MONDO:0005265
- OMIM
- 603030
- Clinvar variants
- Variants in TLR4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Dec 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tlr4 has been classified as Red List (Low Evidence).
16 Dec 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TLR4 was added gene: TLR4 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TLR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TLR4 were set to 32042729; 31442584 Phenotypes for gene: TLR4 were set to Inflammatory bowel disease MONDO:0005265 Review for gene: TLR4 was set to RED