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  2. Common Variable Immunodeficiency
  3. TNFSF12
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Common Variable Immunodeficiency

Gene: TNFSF12

Red List (low evidence)
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: 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, 3:29 a.m. | Last Modified: 12 Apr 2020, 3:29 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Recurrent infections, poor antibody responses, decreased immunoglobulins

Publications

Created: 12 Apr 2020, 3:29 a.m.
Last Modified: 12 Apr 2020, 3:29 a.m.
Panel version: 0.30

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
Panels with this gene

History Filter Activity

12 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFSF12 were changed from Recurrent infections, poor antibody responses, decreased immunoglobulins to Recurrent infections, poor antibody responses, decreased immunoglobulins

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfsf12 has been classified as Red List (Low Evidence).

12 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins

12 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFSF12 were set to

12 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfsf12 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFSF12 was added gene: TNFSF12 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFSF12 was set to Unknown