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Primary immunodeficiency

Gene: TNFSF13

Red List (low evidence)

TNFSF13 (TNF superfamily member 13)
EnsemblGeneIds (GRCh38): ENSG00000161955
EnsemblGeneIds (GRCh37): ENSG00000161955
OMIM: 604472, Gene2Phenotype
TNFSF13 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Relevant phenotype for this panel, but currently only a single case. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity.
Created: 18 Sep 2020, 10:06 a.m. | Last Modified: 18 Sep 2020, 10:06 a.m.
Panel Version: 2.189
PMID: 32298700 (2020) - Homozygous frameshift variant in TNFSF13 identified in a patient with adult common variable immunodeficiency. In vitro analyses indicated a role of the protein product in maintenance of plasmacyte differentiation and immunoglobulin production.
Created: 18 Sep 2020, 10:04 a.m. | Last Modified: 18 Sep 2020, 10:04 a.m.
Panel Version: 2.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Common variable immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • APRIL deficiency
  • Common variable immunodeficiency
OMIM
604472
Clinvar variants
Variants in TNFSF13
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tnfsf13 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: TNFSF13 was added gene: TNFSF13 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF13 were set to 32298700 Phenotypes for gene: TNFSF13 were set to APRIL deficiency; Common variable immunodeficiency Penetrance for gene: TNFSF13 were set to unknown