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  3. TNFRSF13B
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BabyScreen+ newborn screening

Gene: TNFRSF13B

Red List (low evidence)
TNFRSF13B (TNF receptor superfamily member 13B)
EnsemblGeneIds (GRCh38): ENSG00000240505
EnsemblGeneIds (GRCh37): ENSG00000240505
OMIM: 604907, Gene2Phenotype
TNFRSF13B is in 6 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal tract infections. Serum IgG and IgA were low, and serum antibody response to immunization with pneumococcal vaccine was decreased, although T cell-dependent response to tetanus toxin was normal.

I think the age of onset is too variable .

Rx immunoglobulin
Sources: Expert list
Created: 23 Mar 2023, 4:03 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 2 MIM#240500

Publications

Created: 23 Mar 2023, 4:03 a.m.

Panel version: 0.2052

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 2 MIM#240500
Tags
treatable immunological
OMIM
604907
Clinvar variants
Variants in TNFRSF13B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf13b has been classified as Red List (Low Evidence).

23 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf13b has been classified as Red List (Low Evidence).

23 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TNFRSF13B. Tag immunological tag was added to gene: TNFRSF13B.

23 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: TNFRSF13B was added gene: TNFRSF13B was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to PMID: 31681716, PMID: 18981294 Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2 MIM#240500 Review for gene: TNFRSF13B was set to RED