Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TNFRSF9EnsemblGeneIds (GRCh38): ENSG00000049249
EnsemblGeneIds (GRCh37): ENSG00000049249
OMIM: 602250, Gene2Phenotype
TNFRSF9 is in 2 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Phenotypes
EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Immunodeficiency 109 with lymphoproliferation, OMIM:620282
- OMIM
- 602250
- Clinvar variants
- Variants in TNFRSF9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TNFRSF9 were changed from CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma to Immunodeficiency 109 with lymphoproliferation, OMIM:620282
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked was removed from gene: TNFRSF9.
Added Tag
Catherine Snow (Genomics England)Tag gene-checked tag was added to gene: TNFRSF9.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: TNFRSF9.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to TNFRSF9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tnfrsf9 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: TNFRSF9.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tnfrsf9 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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