Predominantly Antibody Deficiency

Gene: IGKC

Amber List (moderate evidence)

IGKC (immunoglobulin kappa constant)
EnsemblGeneIds (GRCh38): ENSG00000211592
EnsemblGeneIds (GRCh37): ENSG00000211592
OMIM: 147200, Gene2Phenotype
IGKC is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021)
- at least 6 probands
https://search.clinicalgenome.org/CCID:005121
Sources: Expert list
Created: 11 Nov 2024, 8:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576

Publications

  • https://search.clinicalgenome.org/CCID:005121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
OMIM
147200
Clinvar variants
Variants in IGKC
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:005121
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IGKC was added gene: IGKC was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121 Phenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Review for gene: IGKC was set to AMBER