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Primary immunodeficiency

Gene: TNFRSF13C

Amber List (moderate evidence)

TNFRSF13C (TNF receptor superfamily member 13C)
EnsemblGeneIds (GRCh38): ENSG00000159958
EnsemblGeneIds (GRCh37): ENSG00000159958
OMIM: 606269, Gene2Phenotype
TNFRSF13C is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

variable clinical expression
Created: 29 Jun 2018, 3:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CVID

Louise Daugherty (Genomics England Curator)

I don't know

Keep Amber until more info on gene and disease association, noted by expert review that there is variable clinical expression, request evidences from GRID and Victorian Clinical Genetics Services
Created: 5 Jul 2018, 2:06 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF13C (BAFF-R) .PanelApp HGNC gene symbol check: TNFRSF13C . IUIS Disease: BAFF receptor deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Variable clinical expression. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 11:53 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: BAFFR, PanelApp HGNC gene symbol check: TNFRSF13C, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Hypogammaglobulinemias / Isolated IgG subclass deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TNFRSF13C, GRID_Gene_Symbol: TNFRSF13C, GRID_Transcript_ENS_Community submitted: ENST00000291232, GRID_Transcript_RefSeq: NM_052945.3, GRID_Transcript_ENS_used_on_Production: ENST00000291232
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Variable clinical expression
  • Common variable immunodeficiency disorders (CVID)
  • Immunodeficiency, common variable, 4
  • Isolated IgG subclass deficiency
  • Predominantly Antibody Deficiencies
OMIM
606269
Clinvar variants
Variants in TNFRSF13C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to TNFRSF13C. Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13C Publications for gene TNFRSF13C were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

5 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TNFRSF13C were set to Immunodeficiency, common variable, 4, Common variable immunodeficiency disorders (CVID), Isolated IgG subclass deficiency, Variable clinical expression, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TNFRSF13C. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to TNFRSF13C. Panel: Primary immunodeficiency disorders

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to TNFRSF13C. Panel: Primary immunodeficiency disorders Phenotypes for gene TNFRSF13C were set to Immunodeficiency, common variable, 4, Common variable immunodeficiency disorders (CVID), Isolated IgG subclass deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TNFRSF13C were set to Immunodeficiency, common variable, 4

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TNFRSF13C was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TNFRSF13C was created by Louise Daugherty