ZC4H2

zinc finger C4H2-type containing
OMIM: 300897, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ZC4H2 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Wieacker-Wolff syndrome, OMIM:314580
  • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Green ZC4H2 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    Phenotypes
    • Wieacker-Wolff syndrome, OMIM:314580
    • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
    Green ZC4H2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Wieacker-Wolff syndrome, OMIM:314580
    • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
    Green ZC4H2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580
    Green ZC4H2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
    Green ZC4H2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Wieacker-Wolff syndrome, OMIM:314580
    • Wieacker-Wolff syndrome, female-restricted, OMIM:301041