Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TNFRSF13C

I don't know

variable clinical expression

Created: 29 Jun 2018, 3:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CVID

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.