PanelApp (staging)
  1. Genes and Genomic Entities
  2. MAP3K14

MAP3K14

mitogen-activated protein kinase kinase kinase 14
OMIM: 604655, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MAP3K14 in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 112, MIM# 620449
  • NIK deficiency
  • Poor T cell proliferation to antigen
  • Low B-cell numbers
  • Low NK number and function
  • recurrent bacterial/viral/ cryptosporidium infections
  • hypogammaglobulinaemia
  • decreased immunoglobulin levels

Green MAP3K14 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 112, MIM# 620449
    • NIK deficiency
    • Poor T cell proliferation to antigen
    • Low B-cell numbers
    • Low NK number and function
    • recurrent bacterial/viral/ cryptosporidium infections
    • hypogammaglobulinaemia
    • decreased immunoglobulin levels

    Green MAP3K14 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 112, MIM# 620449