Disorders of immune dysregulation
Gene: TNFRSF9
Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert listCreated: 5 Apr 2020, 4:26 a.m. | Last Modified: 5 Apr 2020, 4:27 a.m.
Panel Version: 0.40
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Publications
Phenotypes for gene: TNFRSF9 were changed from EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection to Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Gene: tnfrsf9 has been classified as Green List (High Evidence).
Gene: tnfrsf9 has been classified as Green List (High Evidence).
gene: TNFRSF9 was added gene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 30872117 Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection Review for gene: TNFRSF9 was set to RED