Genomics England
GMS Panels
Panels
Genes and Entities

CLCN3

chloride voltage-gated channel 3
OMIM: 600580
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512, CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
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 7.0
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
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