ZIC3

Zic family member 3
OMIM: 300265, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red ZIC3 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, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heterotaxy, visceral, 1, X-linked, MIM# 306955
    • VACTERL association, X-linked, MIM# 314390

    Green ZIC3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 0.138

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • VACTERL association, X-linked, MIM#314390

    Green ZIC3 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    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
    • Heterotaxy, visceral, 1, X-linked (MIM#306955)

    Red ZIC3 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heterotaxy, visceral, 1, X-linked (MIM#306955)

    Green ZIC3 in Heterotaxy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.32

    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
    • Heterotaxy, visceral, 1, X-linked (MIM#306955)

    Green ZIC3 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ZIC3 in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955)
    • Heterotaxy, visceral, 1, X-linked (MIM#306955)
    • VACTERL association, X-linked, MIM# 314390

    Green ZIC3 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.10

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • VACTERL association, X-linked 314390

    Green ZIC3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red ZIC3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Green ZIC3 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
    • Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)

    Green ZIC3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Heterotaxy

    Green ZIC3 in Clefting disorders

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

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
    • VACTERLX

    Green ZIC3 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Expert Review
    Phenotypes
    • Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955
    • Heterotaxy, visceral, 1, X-linked, MIM#306955
    • VACTERL association, X-linked, MIM#314390

    Green ZIC3 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
    • Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)

    Red ZIC3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • X linked heterotaxy and congenital heart defects MIM:306955

    Red VACTERLX STR in Repeat Disorders


    Version 0.167

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • VACTERL association, X-linked MIM#314390
    Tags
    • paediatric-onset