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Newborns main panel

Gene: TNFRSF13C

Amber List (moderate evidence)
TNFRSF13C (TNF receptor superfamily member 13C)
EnsemblGeneIds (GRCh38): ENSG00000159958
EnsemblGeneIds (GRCh37): ENSG00000159958
OMIM: 606269, Gene2Phenotype
TNFRSF13C is in 2 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:17755
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 Amber
Phenotypes
  • Common variable immune deficiency 4
OMIM
606269
Clinvar variants
Variants in TNFRSF13C
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TNFRSF13C. Added phenotypes Common variable immune deficiency 4 for gene: TNFRSF13C Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFRSF13C. Added phenotypes Common variable immune deficiency 4 for gene: TNFRSF13C 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 TNFRSF13C. Added phenotypes Common variable immune deficiency 4 for gene: TNFRSF13C 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 TNFRSF13C. Added phenotypes Common variable immune deficiency 4 for gene: TNFRSF13C 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 TNFRSF13C. 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 4 for gene: TNFRSF13C

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TNFRSF13C was added gene: TNFRSF13C was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal