NFKB2:Ensemblv90

nuclear factor kappa B subunit 2
OMIM: 164012, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber NFKB2 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.68

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 10 615577

Green NFKB2 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 10 MIM# 615577
  • Low serum IgG, IgA, IgM
  • low B cell numbers
  • low switched memory B cells
  • Recurrent sinopulmonary infections, Alopecia
  • endocrinopathies
  • ACTH deficiency

Green NFKB2 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 1.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.15

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.103

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM#615577

    Amber NFKB2 in Ciliary Dyskinesia


    Level 2: Respiratory disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Immunodeficiency, common variable, 10 615577

    Green NFKB2 in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 2.0

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM# 615577
    • Low serum IgG, IgA, IgM
    • low B cell numbers
    • low switched memory B cells
    • Recurrent sinopulmonary infections, Alopecia
    • endocrinopathies
    • ACTH deficiency

    Green NFKB2 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, common variable, 10 MIM#615577