Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: TNFRSF13B

Green List (high evidence)

TNFRSF13B (TNF receptor superfamily member 13B)
EnsemblGeneIds (GRCh38): ENSG00000240505
EnsemblGeneIds (GRCh37): ENSG00000240505
OMIM: 604907, Gene2Phenotype
TNFRSF13B is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: The content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'TNFRSF13B-related immunodeficiency, common variable' is currently classified as 'strong' (https://www.ebi.ac.uk/gene2phenotype/gene/TNFRSF13B) which maps to the PanelApp rating of Green - therefore this rating will be maintained on this panel.
Created: 2 Sep 2025, 3:16 p.m. | Last Modified: 2 Sep 2025, 3:16 p.m.
Panel Version: 6.5

Ronnie Wright (North West GLH)

Red List (low evidence)

I think all curation of this gene and it's association with common variable immunodeficiency should take the lead from expert clinician's curating the primary immunodeficiency gene panel.
https://panelapp.genomicsengland.co.uk/panels/398/gene/TNFRSF13B/

It is inappropriate to suggest this should be considered for clinically actionable reporting in referrals with non-specific paediatric disorders, and not those referred specifically with primary immunodeficiency.

There should be some sort of resolution between the ratings of this gene in different panels.
Created: 19 Mar 2025, 3:08 p.m. | Last Modified: 19 Mar 2025, 3:08 p.m.
Panel Version: 5.48

Mode of inheritance
Other

Mode of pathogenicity
Other

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:16007086).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500
OMIM
604907
Clinvar variants
Variants in TNFRSF13B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tnfrsf13b has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TNFRSF13B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TNFRSF13B was added gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 16007086 Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500