ZIC3

Zic family member 3
OMIM: 300265, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red ZIC3 in Currarino triad


Version 1.1

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
Phenotypes
  • Heterotaxy, visceral, 1, X-linked
  • Sacral agenesis
  • Rectal stenosis

Green ZIC3 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL association, X-linked 314390

Green ZIC3 in VACTERL-like phenotypes

Level 3: Limb disorders
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association, X-linked
  • Heterotaxy, visceral, 1, X-linked 306955

Green ZIC3 in Hydrocephalus


Version 2.131
Latest signed off version: v2.3 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • VACTERL association, X-linked, OMIM:314390

Red ZIC3 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

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

Green ZIC3 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • VACTERL association, X-linked 314390

    Green ZIC3 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.77

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • x-linked Heterotaxy syndrome, Visceral, 1
    • Heterotaxy, visceral, 1, X-linked 306955
    • Visceral Heterotaxy
    • Heterotaxy, Visceral, 1, X-Linked

    Red ZIC3 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.40

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green ZIC3 in Laterality disorders and isomerism


    Version 1.51
    Latest signed off version: v1.19 (15 Oct 2020)

    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
    Phenotypes
    • Heterotaxy, visceral, 1, X-linked, 306955
    • Congenital heart defects, nonsyndromic, 1, X-linked

    Red ZIC3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.208
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green ZIC3 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.169

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.8

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    • Other
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • anorectal malformation
    • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
    • VACTERL Association, X-linked 314390
    • VACTERLX 314390

    Green ZIC3 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
    • HETEROTAXY SYNDROME

    Green ZIC3 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683
    • HETEROTAXY SYNDROME 207574

    Green ZIC3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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

    Red ZIC3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Heterotaxy, visceral, 1, X-linked 306955
    • Congenital heart defects, nonsyndromic, 1, X-linked, 306955
    • VACTERL association, X-linked, 314390

    Red ZIC3 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

    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 Red
    • Emory Genetics Laboratory
    • Expert list

    Green ZIC3 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • VACTERL association, X-linked, 314390
    • Heterotaxy, visceral, 1, X-linked, 306955
    • Congenital heart defects, nonsyndromic, 1, X-linked, 306955