CACNA1E

calcium voltage-gated channel subunit alpha1 E
OMIM: 601013
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 69, 618285, congenital joint contractures
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Dystonia, Congenital contracture, Macrocephaly
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias, Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Dystonia, Congenital contracture, Macrocephaly, Epileptic encephalopathy, early infantile, 69, 618285