CDH2

PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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 malformation
Signed-off version 4.0
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 3.0
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:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes