1. Genes and Genomic Entities
  2. CDH2

CDH2

cadherin 2
OMIM: 114020, Gene2Phenotype

8 panels

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

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
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
    • 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 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.9
    Latest signed off version: v3.5 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  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 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Green CDH2 in DDG2P


    Version 3.88
    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
    • 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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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
    • 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


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list