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COVID-19 research

Gene: IGKC

Green List (high evidence)

IGKC (immunoglobulin kappa constant)
EnsemblGeneIds (GRCh38): ENSG00000211592
EnsemblGeneIds (GRCh37): ENSG00000211592
OMIM: 147200, Gene2Phenotype
IGKC is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

No evidence that this leads to clinical immunodeficiency
Created: 20 Jun 2018, 7:10 p.m.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunoglobulin chain deficiencies
  • Kappa light chain deficiency, 614102
  • Asymptomatic
  • Predominantly Antibody Deficiencies
OMIM
147200
Clinvar variants
Variants in IGKC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to IGKC. Added phenotypes Immunoglobulin chain deficiencies; Kappa light chain deficiency, 614102; Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: IGKC was added gene: IGKC was added to Viral susceptibility. Sources: ESID Registry 20171117,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGKC were set to 32086639; 32048120; 4185453 Phenotypes for gene: IGKC were set to Immunoglobulin chain deficiencies; Kappa light chain deficiency, 614102; Asymptomatic; Predominantly Antibody Deficiencies