CACNA1E

calcium voltage-gated channel subunit alpha1 E
OMIM: 601013
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias, Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Dystonia, Congenital contracture, Macrocephaly
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Dystonia, Congenital contracture, Macrocephaly, Epileptic encephalopathy, early infantile, 69, 618285