Common Variable Immunodeficiency
Gene: TNFRSF13B

TNFRSF13B (TNF receptor superfamily member 13B)
EnsemblGeneIds (GRCh38): ENSG00000240505
EnsemblGeneIds (GRCh37): ENSG00000240505
OMIM: 604907, Gene2Phenotype
TNFRSF13B is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 7:55 a.m. | Last Modified: 21 Jul 2020, 7:55 a.m.

Panel Version: 0.71

Created: 21 Jul 2020, 7:55 a.m.
Last Modified: 21 Jul 2020, 7:55 a.m.
Panel version: 0.71

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene which are reported in the literature have a high population frequency, including homozygotes. As such, and particularly in relation to heterozygous variants, these can be considered as contributory rather than solely causative and caution needs to be exercised in reporting.
Created: 12 Apr 2020, 1:45 a.m. | Last Modified: 12 Apr 2020, 1:45 a.m.

Panel Version: 0.23

Mode of inheritance
Other

Phenotypes
Immunodeficiency, common variable, 2, MIM# 240500

Publications

Created: 12 Apr 2020, 1:45 a.m.
Last Modified: 12 Apr 2020, 1:45 a.m.
Panel version: 0.23

Details

Mode of Inheritance

Other

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency, common variable, 2, MIM# 240500

OMIM

604907

Clinvar variants

Variants in TNFRSF13B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Apr 2020, Gel status: 3