Genomics England
GMS Panels
Panels
Genes and Entities

CDH2

cadherin 2
OMIM: 114020
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Green
in Dilated and arrhythmogenic cardiomyopathy
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
R-numbers: R132
Signed-off version 2.25
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes