Genomics England
GMS Panels
Panels
Genes and Entities

CLCN1

chloride voltage-gated channel 1
OMIM: 118425
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myotonia congenita, dominant OMIM:160800, Myotonia congenita, recessive OMIM:255700