CLCN6

chloride voltage-gated channel 6
OMIM: 602726, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CLCN6 in Neuronal ceroid lipofuscinosis


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Tags
  • Q2_21_rating

Red CLCN6 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.474
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Literature