CACNA1B

calcium voltage-gated channel subunit alpha1 B
OMIM: 601012
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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