Susceptibility to Viral Infections
Gene: TNFRSF9EnsemblGeneIds (GRCh38): ENSG00000049249
EnsemblGeneIds (GRCh37): ENSG00000049249
OMIM: 602250, Gene2Phenotype
TNFRSF9 is in 3 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Patient with novel biallelic variants (c.208 + 1>AT and p.T151K) with EBV induced lymphoproliferative disease and chronic active EBV. Multiple previous patients reported with EBV associated disease (table1).
Sources: LiteratureCreated: 18 Jul 2023, 5:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EBV associated lymphoproliferative disease
Publications
- PMID: 37144041
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Immunodeficiency 109 with lymphoproliferation, MIM# 620282
- OMIM
- 602250
- Clinvar variants
- Variants in TNFRSF9
- Penetrance
- None
- Publications
-
- PMID: 37144041
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tnfrsf9 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TNFRSF9 were changed from EBV associated lymphoproliferative disease to Immunodeficiency 109 with lymphoproliferation, MIM# 620282
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tnfrsf9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: TNFRSF9 was added gene: TNFRSF9 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to PMID: 37144041 Phenotypes for gene: TNFRSF9 were set to EBV associated lymphoproliferative disease Review for gene: TNFRSF9 was set to GREEN