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Primary immunodeficiency

Gene: TLR8

Red List (low evidence)

TLR8 (toll like receptor 8)
EnsemblGeneIds (GRCh38): ENSG00000101916
EnsemblGeneIds (GRCh37): ENSG00000101916
OMIM: 300366, Gene2Phenotype
TLR8 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: 6 unrelated individuals with relevant phenotype, associated with variants in this gene (https://doi.org/10.1182/blood.2020009620). However, 5 cases had somatic mosaicism and this panel is not appropriate for somatic variant detection due to coverage. Therefore, rating Red but this may be reviewed if additional cases with germline variants emerge.
Created: 15 Jan 2021, 11:36 a.m. | Last Modified: 15 Jan 2021, 11:36 a.m.
Panel Version: 2.390

Boaz Palterer (University of Florence)

I don't know

Aluri et al. (Blood 2020, 10.1182/blood.2020009620) identified six unrelated males with neutropenia, infections, lymphoproliferation, humoral immune defects, and bone marrow failure associated with three different variants in the X-linked gene TLR8, encoding the endosomal Toll-like receptor 8 (TLR8).
The variants are functionally gain-of-function and all patients are males, it's unclear if heterozygous females are affected. Both germline and somatic variants have been identified, but somatic mutations appear to be prominent.
Sources: Literature
Created: 26 Dec 2020, 11:34 p.m.

Mode of inheritance
Other

Phenotypes
neutropenia; lymphoproliferation; hypogammaglobulinemia; bone marrow failure

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • neutropenia
  • lymphoproliferation
  • hypogammaglobulinemia
  • bone marrow failure
Tags
mosaicism somatic
OMIM
300366
Clinvar variants
Variants in TLR8
Penetrance
unknown
Publications
  • https://doi.org/10.1182/blood.2020009620
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

15 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TLR8 was changed from Other to Unknown

15 Jan 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag mosaicism tag was added to gene: TLR8. Tag somatic tag was added to gene: TLR8.

15 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

14 Jan 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TLR8 were set to 10.1182/blood.2020009620

26 Dec 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: TLR8 was added gene: TLR8 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TLR8 was set to Other Publications for gene: TLR8 were set to 10.1182/blood.2020009620 Phenotypes for gene: TLR8 were set to neutropenia; lymphoproliferation; hypogammaglobulinemia; bone marrow failure Penetrance for gene: TLR8 were set to unknown Mode of pathogenicity for gene: TLR8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TLR8 was set to AMBER