Bone Marrow Failure
Gene: TLR8EnsemblGeneIds (GRCh38): ENSG00000101916
EnsemblGeneIds (GRCh37): ENSG00000101916
OMIM: 300366, Gene2Phenotype
TLR8 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: LiteratureCreated: 1 Feb 2021, 10:10 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
- Tags
- OMIM
- 300366
- Clinvar variants
- Variants in TLR8
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tlr8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tlr8 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TLR8 was added gene: TLR8 was added to Bone Marrow Failure. Sources: Literature somatic tags were added to gene: TLR8. 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 33512449 Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure Mode of pathogenicity for gene: TLR8 was set to Other Review for gene: TLR8 was set to GREEN