IKZF2

IKAROS family zinc finger 2
OMIM: 606234, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IKZF2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
  • Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Amber IKZF2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
  • Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Red IKZF2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
    • Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
    Tags
    • de novo