CDH2

cadherin 2
OMIM: 114020, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CDH2 in Malformations of cortical development


Level 2: Neurology
Version 8.3
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
    Amber CDH2 in Arrhythmogenic right ventricular cardiomyopathy


    Level 2: Cardiology
    Version 3.16
    Latest signed off version: v3.15 (6 May 2026)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
    Green CDH2 in Dilated and arrhythmogenic cardiomyopathy


    Level 2: Cardiology
    Version 4.1
    Latest signed off version: v4.0 (6 May 2026)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Green CDH2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    Latest signed off version: v7.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
    Green CDH2 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
    Green CDH2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.6
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
    Green CDH2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
    Amber CDH2 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.6
    Latest signed off version: v5.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
    • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
    Green CDH2 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.2
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list