NFKB1

nuclear factor kappa B subunit 1
OMIM: 164011, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber NFKB1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 12 616576

Green NFKB1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 12 MIM# 616576
  • Normal-low IgG, IgA, IgM
  • low-normal B cells
  • low switched memory B cells
  • hypogammaglobulinaemia
  • recurrent respiratory and gastrointestinal infections
  • Chronic obstructive pulmonary disease COPD
  • EBV proliferation
  • autoimmunity
  • alopecia

Green NFKB1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 0.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, common variable, 12 MIM# 616576
    • Normal-low IgG, IgA, IgM
    • low-normal B cells
    • low switched memory B cells
    • hypogammaglobulinaemia
    • recurrent respiratory and gastrointestinal infections
    • Chronic obstructive pulmonary disease COPD
    • EBV proliferation
    • autoimmunity
    • alopecia

    Green NFKB1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, common variable, 12 MIM# 616576
    • Normal-low IgG, IgA, IgM
    • low-normal B cells
    • low switched memory B cells
    • hypogammaglobulinaemia
    • recurrent respiratory and gastrointestinal infections
    • Chronic obstructive pulmonary disease COPD
    • EBV proliferation
    • autoimmunity
    • alopecia

    Green NFKB1 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, common variable, 12 MIM# 616576
    • Normal-low IgG, IgA, IgM
    • low-normal B cells
    • low switched memory B cells
    • hypogammaglobulinaemia
    • recurrent respiratory and gastrointestinal infections
    • Chronic obstructive pulmonary disease COPD
    • EBV proliferation
    • autoimmunity
    • alopecia