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  2. Predominantly Antibody Deficiency
  3. TNFSF13
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Predominantly Antibody Deficiency

Gene: TNFSF13

Red List (low evidence)
TNFSF13 (TNF superfamily member 13)
EnsemblGeneIds (GRCh38): ENSG00000161955
EnsemblGeneIds (GRCh37): ENSG00000161955
OMIM: 604472, Gene2Phenotype
TNFSF13 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual, consanguineous parents.
Sources: Literature
Created: 13 Jul 2022, 9:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related

Publications

Created: 13 Jul 2022, 9:11 a.m.

Panel version: Imported from Mendeliome panel version 1.111

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single patient born to consanguineous parents
Sources: Literature
Created: 12 Jul 2022, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogammaglobulinaemia

Publications

Created: 12 Jul 2022, 5:57 a.m.

Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review Red
Phenotypes
  • Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
OMIM
604472
Clinvar variants
Variants in TNFSF13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFSF13 were changed from Hypogammaglobulinaemia to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: TNFSF13 was added gene: TNFSF13 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF13 were set to PMID: 32298700 Phenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia Review for gene: TNFSF13 was set to RED