Primary immunodeficiencyGene: TNFRSF9
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:45 p.m. | Last Modified: 20 Oct 2020, 3:45 p.m.
Panel Version: 2.361
Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Created: 15 Apr 2020, 3:30 p.m. | Last Modified: 15 Apr 2020, 3:30 p.m.
Panel Version: 2.75
Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Created: 12 Apr 2020, 3:22 a.m. | Last Modified: 12 Apr 2020, 3:22 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Variants in this GENE are reported as part of current diagnostic practice
Gene: tnfrsf9 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TNFRSF9.
Gene: tnfrsf9 has been classified as Green List (High Evidence).
Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120
gene: TNFRSF9 was added gene: TNFRSF9 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 32048120; 32086639 Phenotypes for gene: TNFRSF9 were set to CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma