Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: TNFRSF9

Amber List (moderate evidence)

TNFRSF9 (TNF receptor superfamily member 9)
EnsemblGeneIds (GRCh38): ENSG00000049249
EnsemblGeneIds (GRCh37): ENSG00000049249
OMIM: 602250, Gene2Phenotype
TNFRSF9 is in 2 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

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)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • CD137 deficiency (41BB)
  • EBV lymphoproliferation, B-cell lymphoma
Tags
for-review
OMIM
602250
Clinvar variants
Variants in TNFRSF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tnfrsf9 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TNFRSF9.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tnfrsf9 has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120

28 Feb 2020, Gel status: 1

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