Paroxysmal central nervous system disorders

Gene: CLCN1

Red List (low evidence)

CLCN1 (chloride voltage-gated channel 1)
EnsemblGeneIds (GRCh38): ENSG00000188037
EnsemblGeneIds (GRCh37): ENSG00000188037
OMIM: 118425, Gene2Phenotype
CLCN1 is in 4 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted CLCN1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 2:45 p.m. | Last Modified: 9 Sep 2019, 2:45 p.m.
Panel Version: 0.34
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myotonia congenita, recessive, 255700; Myotonia congenita, dominant, 160800

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Myotonia levior, recessive
  • Myotonia congenita, recessive, 255700
  • Hyperkalemic Periodic Paralysis
  • Myotonia Congenita
  • Myotonia
  • Myotonia congenita, dominant, 160800
OMIM
118425
Clinvar variants
Variants in CLCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: clcn1 has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: clcn1 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CLCN1.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CLCN1.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CLCN1.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CLCN1 was added gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220 Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800