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STRs in panel
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Primary immunodeficiency

Gene: TNFRSF9

Green List (high 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)

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)

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 Green
  • IUIS Classification December 2019
Phenotypes
  • CD137 deficiency (41BB)
  • EBV lymphoproliferation, B-cell lymphoma
Tags
gene-checked
OMIM
602250
Clinvar variants
Variants in TNFRSF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag gene-checked tag was added to gene: TNFRSF9.

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TNFRSF9.

4 Mar 2022, Gel status: 3

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)

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