NFKB2

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber NFKB2 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

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 2.0

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 2.0

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 2.0

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 Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

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

Green NFKB2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

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 Autoimmune Lymphoproliferative Syndrome


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 10 MIM# 615577

Green NFKB2 in Adrenal insufficiency

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 1.0

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