Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IGKC

I don't know

No evidence that this leads to clinical immunodeficiency

Created: 20 Jun 2018, 7:10 p.m.

I don't know

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IGKC .PanelApp HGNC gene symbol check: IGKC . IUIS Disease: Kappa chain deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Asymptomatic. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells

Created: 2 Jul 2018, 10:35 a.m.

After internal and external review it was decided to leave this gene as Amber until more info on gene and disease association. This gene is on the GRID panel.

Created: 21 Jun 2018, 1:10 p.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: 20 Apr 2018, 12:25 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: Kappa light chain, PanelApp HGNC gene symbol check: IGKC, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Immunoglobulin chain deficiencies

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IGKC, GRID_Gene_Symbol: IGKC, GRID_Transcript_ENS_Community submitted: ENST00000390237, GRID_Transcript_RefSeq: null, GRID_Transcript_ENS_used_on_Production: ENST00000390237

Created: 17 Apr 2018, 12:12 p.m.