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Primary immunodeficiency

Gene: IGKC

Amber List (moderate 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
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Expert Review Amber
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunoglobulin chain deficiencies
  • Asymptomatic
  • Kappa light chain deficiency, 614102
  • Predominantly Antibody Deficiencies
OMIM
147200
Clinvar variants
Variants in IGKC
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 IGKC. Added phenotypes Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC Publications for gene IGKC were updated from 4185453 to 32048120; 4185453; 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.

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IGKC were set to Kappa light chain deficiency, 614102, Immunoglobulin chain deficiencies, Asymptomatic, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IGKC were set to Kappa light chain deficiency, 614102; Immunoglobulin chain deficiencies

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGKC were set to 4185453

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IGKC. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to IGKC. Panel: Primary immunodeficiency disorders Phenotypes for gene IGKC were set to Kappa light chain deficiency, Immunoglobulin chain deficiencies

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IGKC were set to Kappa light chain deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IGKC was created by Louise Daugherty