ZC4H2

zinc finger C4H2-type containing
OMIM: 300897, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ZC4H2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wieacker-Wolff syndrome (MIM#314580)

    Green ZC4H2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wieacker-Wolff syndrome, MIM# 314580

    Green ZC4H2 in Mendeliome


    Version 1.1891

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wieacker-Wolff syndrome, MIM# 314580

    Green ZC4H2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    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
    • Genetic Health Queensland
    Phenotypes
    • Wieacker-Wolff syndrome, MIM# 314580

    Green ZC4H2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wieacker-Wolff syndrome, 314580 (3)

    Green ZC4H2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    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
    • Expert Review
    Phenotypes
    • Wieacker-Wolff syndrome, MIM# 314580

    Green ZC4H2 in Fetal anomalies


    Version 1.255

    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
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Wieacker-Wolff syndrome, OMIM#314580
    • Wieacker-Wolff syndrome, female-restricted, OMIM#301041

    Green ZC4H2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wieacker-Wolff syndrome, 314580 (3)