CLCN1

chloride voltage-gated channel 1
OMIM: 118425, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CLCN1 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.45

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myotonia congenita, recessive, 255700
  • Myotonia congenita, dominant, 160800
  • Myotonia levior, recessive
  • Myotonia Congenita
  • Hyperkalemic Periodic Paralysis
  • Myotonia

Red CLCN1 in Paroxysmal central nervous system disorders


Version 2.2
Latest signed off version: v2.1 (23 Jun 2022)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Myotonia levior, recessive
  • Myotonia congenita, recessive, 255700
  • Hyperkalemic Periodic Paralysis
  • Myotonia Congenita
  • Myotonia
  • Myotonia congenita, dominant, 160800

Green CLCN1 in Skeletal muscle channelopathy


Version 2.2
Latest signed off version: v2.1 (23 Jun 2022)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Myotonia congenita, dominant OMIM:160800
  • Myotonia congenita, recessive OMIM:255700

Red CLCN1 in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.2
Latest signed off version: v3.1 (23 Jun 2022)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Myotonia congenita, dominant, 160800