IGKC:Ensemblv90

immunoglobulin kappa constant
OMIM: 147200, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber IGKC in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Tags
  • technically challenging

Amber IGKC in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 1.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576

    Amber IGKC in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576