IKZF2

IKAROS family zinc finger 2
OMIM: 606234, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IKZF2 in Mendeliome


Version 1.2302

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, MONDO:0021094, IKZF2-related
  • Immune dysregulation
  • nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related

Green IKZF2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • HELIOS deficiency MONDO:0800139

    Green IKZF2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency, MONDO:0021094, IKZF2-related
    • Immune dysregulation

    Green IKZF2 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related