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  2. NFKBIA

NFKBIA

NFKB inhibitor alpha
OMIM: 164008, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NFKBIA in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
  • Ectodermal dysplasia
  • TCR/ BCR activation impaired
  • low memory and isotype switched B cells
  • decreased IgG and IgA
  • elevated IgM
  • poor specific antibody responses
  • diarrhoea
  • agammaglobulinaemia
  • ectodermal dysplasia
  • recurrent respiratory and gastrointestinal infections
  • colitis
  • variable defects of skin, hair and teeth

Green NFKBIA 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
    • Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
    • Ectodermal dysplasia
    • TCR/ BCR activation impaired
    • low memory and isotype switched B cells
    • decreased IgG and IgA
    • elevated IgM
    • poor specific antibody responses
    • diarrhoea
    • agammaglobulinaemia
    • ectodermal dysplasia
    • recurrent respiratory and gastrointestinal infections
    • colitis
    • variable defects of skin, hair and teeth

    Green NFKBIA in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ectodermal dysplasia and immunodeficiency 2 MIM#612132

    Green NFKBIA in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green NFKBIA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
    Tags
    • treatable
    • immunological