CACNA1B

calcium voltage-gated channel subunit alpha1 B
OMIM: 601012
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497, Global developmental delay, Developmental regression, Seizures, Intellectual disability, Abnormality of movement, Progressive Epilepsy-Dyskinesia
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497, Progressive Epilepsy-Dyskinesia, Seizures, Abnormality of movement, Intellectual disability, Developmental regression, Global developmental delay