ZFHX4

zinc finger homeobox 4
OMIM: 606940, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ZFHX4 in Congenital fibrosis of the extraocular muscles


Level 2: Ophthalmology
Version 2.8
Latest signed off version: v2.7 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital ptosis, MONDO:0008340
Tags
  • Q3_26_NHS_review
  • Q3_26_promote_green
Green ZFHX4 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ZFHX4-related developmental disorder (monoallelic)
    Tags
    • gene-checked
    Green ZFHX4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Developmental disorders
    • intellectual disability, dysmorphic features
    Tags
    • gene-checked