Predominantly Antibody Deficiency
Gene: TNFSF12

TNFSF12 (TNF superfamily member 12)
EnsemblGeneIds (GRCh38): ENSG00000239697
EnsemblGeneIds (GRCh37): ENSG00000239697
OMIM: 602695, Gene2Phenotype
TNFSF12 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 8:31 a.m. | Last Modified: 21 Jul 2020, 8:31 a.m.

Panel Version: 0.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Common variable immunodeficiency

Publications

Created: 21 Jul 2020, 8:31 a.m.
Last Modified: 21 Jul 2020, 8:31 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.72

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three individuals from one family reported, some functional data.
Created: 12 Apr 2020, 3:34 a.m. | Last Modified: 12 Apr 2020, 3:34 a.m.

Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Recurrent infections, poor antibody responses, decreased immunoglobulins

Publications

23493554

Created: 12 Apr 2020, 3:34 a.m.
Last Modified: 12 Apr 2020, 3:34 a.m.
Panel version: 0.53

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Recurrent infections, poor antibody responses, decreased immunoglobulins

OMIM

602695

Clinvar variants

Variants in TNFSF12

Penetrance

None

Publications

23493554

Panels with this gene