Newborns additional phenotypes panel 1
Gene: TNFRSF13B

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: 7 Jul 2023, 9:29 a.m. | Last Modified: 7 Jul 2023, 9:29 a.m.

Panel Version: 0.31

https://search.clinicalgenome.org/kb/genes/HGNC:18153
Created: 7 Jul 2023, 9:29 a.m. | Last Modified: 7 Jul 2023, 9:29 a.m.

Panel Version: 0.31

Created: 7 Jul 2023, 9:29 a.m.
Last Modified: 7 Jul 2023, 9:29 a.m.
Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Common variable immune deficiency 2, autosomal dominant

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 dominant

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

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