ZIC2

Zic family member 2
OMIM: 603073, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red ZIC2 in Familial Neural Tube Defects


Version 1.10

review Not set
Sources
  • Expert Review Red
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 5
  • Holoprosencephaly
Green ZIC2 in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Holoprosencephaly 5, OMIM:609637
Red ZIC2 in Pituitary hormone deficiency


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 5 (609637)
Green ZIC2 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    Phenotypes
    • Holoprosencephaly-5
    • Holoprosencephaly
    • Holoprosencephaly 5, 609637
    Green ZIC2 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY
    Green ZIC2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 609637
    Green ZIC2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 5
    • HPE5
    Red ZIC2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Wessex and West Midlands GLH
    Phenotypes
    • Holoprosencephaly 5, 609637
    Green ZIC2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-5, 609637
    • HOLOPROSENCEPHALY
    Amber ZIC2 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Holoprosencephaly 5, 609637
    Green ZIC2 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly 5, 609637