CDH2

PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
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