1. Panels
  2. Newborns main panel
  3. TNFRSF13B
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: TNFRSF13B

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:18153
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Common variable immune deficiency 2, autosomal recessive
OMIM
604907
Clinvar variants
Variants in TNFRSF13B
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TNFRSF13B were changed from Common variable immune deficiency 2 to Common variable immune deficiency 2, autosomal recessive

14 Sep 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to TNFRSF13B. Added phenotypes Common variable immune deficiency 2 for gene: TNFRSF13B Rating Changed from Green List (high evidence) to Red List (low evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFRSF13B. Mode of inheritance for gene TNFRSF13B was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Common variable immune deficiency 2 for gene: TNFRSF13B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TNFRSF13B. Added phenotypes Common variable immune deficiency 2 for gene: TNFRSF13B Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFRSF13B. Added phenotypes Common variable immune deficiency 2 for gene: TNFRSF13B Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to TNFRSF13B. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Common variable immune deficiency 2 for gene: TNFRSF13B

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TNFRSF13B was added gene: TNFRSF13B was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal