CDH2

cadherin 2
OMIM: 114020, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber CDH2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • 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
    Tags
    • for-review

    Green CDH2 in Arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
    Tags
    • for-review

    Green CDH2 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.13
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS

    Amber CDH2 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

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

    Amber CDH2 in Paediatric disorders - additional genes


    Version 1.84
    Latest signed off version: v1.1 (11 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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
    Tags
    • for-review

    Amber CDH2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    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
    Tags
    • for-review

    Amber CDH2 in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    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
    Tags
    • for-review

    Green CDH2 in Cardiomyopathies - including childhood onset


    Version 1.19
    Latest signed off version: v1.4 (19 Feb 2020)

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