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Genetic epilepsy syndromes

Gene: CLCN6

Red List (low evidence)

CLCN6 (chloride voltage-gated channel 6)
EnsemblGeneIds (GRCh38): ENSG00000011021
EnsemblGeneIds (GRCh37): ENSG00000011021
OMIM: 602726, Gene2Phenotype
CLCN6 is in 2 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Changed rating from Amber to Red based on post-Webex reviews from Helen Lord and Alison Callaway: the current published association between CLCN6 and seizures is weak.
Created: 9 Sep 2019, 9:32 a.m. | Last Modified: 9 Sep 2019, 9:32 a.m.
Panel Version: 1.302
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262

Helen Lord (Oxford Medical Genetics Laboratories)

Red List (low evidence)

Not associated with dosease on OMIM. HGMD Pro - 4 variants listed all as DM?. Wang et al, 2017 (28074849) - de novo missense variant identified (Glu178Ala) - patient D1435 who had spasms in cluster change to tonic-clonic and myoclonic seizure - classed as likely pathogenic. Yamomoto et al (25794116) - BPEI -3 missense variants identified in CLCN6. 2 ifthese variants were found in 1 control sample (R319Q) or listed in the SNV database (V387M).
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Red List (low evidence)

4 variants on HGMDPro, all 'DM?', only one associated with spasms. No associated phenotype on OMIM.
Created: 23 Aug 2019, 10:17 a.m. | Last Modified: 23 Aug 2019, 10:17 a.m.
Panel Version: 1.256

Sarah Leigh (Genomics England Curator)

I don't know

Comment on publications: PMID 29667327 - one case with seizures, no other work up

PMID 26658788 - reference to rare traits and BP control

PMID 25794116 - three families with variants and a history of seizures. However one person with a reported phenotype of seizures was variant negative and the functional work does not look compelling
Created: 9 Jul 2019, 1:55 p.m. | Last Modified: 9 Jul 2019, 1:55 p.m.
Panel Version: 1.142
Sources: Literature
Created: 9 Jul 2019, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Literature
OMIM
602726
Clinvar variants
Variants in CLCN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CLCN6.

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CLCN6.

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: clcn6 has been classified as Red List (Low Evidence).

9 Jul 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116

9 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clcn6 has been classified as Amber List (Moderate Evidence).

9 Jul 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CLCN6 was added gene: CLCN6 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CLCN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116 Review for gene: CLCN6 was set to AMBER