Genomics England
GMS Panels
Panels
Genes and Entities

CACNB4

calcium voltage-gated channel auxiliary subunit beta 4
OMIM: 601949
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682, {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682, Episodic ataxia, type 5 OMIM:613855, Intellectual disability