Genomics England
GMS Panels
Panels
Genes and Entities

CACNB4

calcium voltage-gated channel auxiliary subunit beta 4
OMIM: 601949
PanelMode of inheritanceDetails
1 panel
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5