IKZF1

IKAROS family zinc finger 1
OMIM: 603023, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IKZF1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 13 MIM# 616873
  • recurrent bacterial respiratory infections
  • Thrombocytopaenia
  • immunodeficiency
  • Hypogammaglobulinaemia
  • decrease B-cells
  • decrease B-cell differentiation
  • decrease memory B/T cells
  • Low Ig
  • pneumocystis early CID onset
  • Immune dysregulation

Green IKZF1 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
    • Expert list
    Phenotypes
    • Immunodeficiency, common variable, 13, MIM# 616873
    • Low IgG, IgA, IgM, low or normal B cells
    • B cells and Ig levels reduce with age
    • Decreased pro-B cells
    • Recurrent sinopulmonary infections
    • Increased risk of ALL, autoimmunity

    Green IKZF1 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, 13 MIM# 616873
    • recurrent bacterial respiratory infections
    • Thrombocytopaenia
    • immunodeficiency
    • Hypogammaglobulinaemia
    • decrease B-cells
    • decrease B-cell differentiation
    • decrease memory B/T cells
    • Low Ig
    • pneumocystis early CID onset

    Green IKZF1 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, 13 MIM# 616873
    • recurrent bacterial respiratory infections
    • Thrombocytopaenia
    • immunodeficiency
    • Hypogammaglobulinaemia
    • decrease B-cells
    • decrease B-cell differentiation
    • decrease memory B/T cells
    • Low Ig
    • pneumocystis early CID onset

    Green IKZF1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 0.186

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immune dysregulation

    Green IKZF1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency, common variable, 13 MIM# 616873
    Tags
    • treatable
    • immunological