Predominantly Antibody Deficiency
Gene: TNFRSF13C

TNFRSF13C (TNF receptor superfamily member 13C)
EnsemblGeneIds (GRCh38): ENSG00000159958
EnsemblGeneIds (GRCh37): ENSG00000159958
OMIM: 606269, Gene2Phenotype
TNFRSF13C is in 4 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: 0.72

Created: 21 Jul 2020, 7:55 a.m.
Last Modified: 21 Jul 2020, 7:55 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.72

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

I can only find one definite report of disease in humans caused by variants in this gene.
Created: 12 Apr 2020, 2:36 a.m. | Last Modified: 12 Apr 2020, 2:36 a.m.

Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 4, MIM# 613494

Publications

Created: 12 Apr 2020, 2:36 a.m.
Last Modified: 12 Apr 2020, 2:36 a.m.
Panel version: 0.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Immunodeficiency, common variable, 4, MIM# 613494

OMIM

606269

Clinvar variants

Variants in TNFRSF13C

Penetrance

None

Publications

Panels with this gene