Genomics England
GMS Panels
Panels
Genes and Entities

CLCN6

chloride voltage-gated channel 6
OMIM: 602726
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLCN6-related Developmental Disorder
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173