CLCN3

chloride voltage-gated channel 3
OMIM: 600580
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512, Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517