1. Panels
  2. A- or hypo-gammaglobulinaemia
  3. TNFRSF13B
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A- or hypo-gammaglobulinaemia

Gene: TNFRSF13B

Amber List (moderate evidence)
TNFRSF13B (TNF receptor superfamily member 13B)
EnsemblGeneIds (GRCh38): ENSG00000240505
EnsemblGeneIds (GRCh37): ENSG00000240505
OMIM: 604907, Gene2Phenotype
TNFRSF13B is in 4 panels

4 reviews

William Rae (University Hospital Southampton NHS Foundation Trust)

Red List (low evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three negative expert reviews, 6 LOF variants reported in two publications. Association with Immunodeficiency, common variable, 2, 240500 in Gen2Phen
Created: 11 May 2016, 10:35 a.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Variants seem to behave as risk alleles and do not appear to act alone when disease occurs
Created: 19 Oct 2015, 2:37 p.m.

Mode of inheritance
Other

Phenotypes
CVID; IGAD

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunoglobulin A deficiency 2, 609529
  • Immunodeficiency, common variable, 2, 240500
OMIM
604907
Clinvar variants
Variants in TNFRSF13B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TNFRSF13B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TNFRSF13B were set to 16007086; 16007087;

11 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TNFRSF13B were set to Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TNFRSF13B was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen