Skeletal Muscle Channelopathies

Gene: KCNQ2

Red List (low evidence)

KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 15 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Downgraded from Amber to Red. This gene was not submitted as part of the GMS on the Myotonia congenita panel, it is also noted by reviewer Fowzan Alkuraya that they do not think the evidence linking this gene to the intended phenotype for this panel i.e. muscle channelopathy is compelling
Created: 8 Nov 2019, 2:44 p.m. | Last Modified: 8 Nov 2019, 2:44 p.m.
Panel Version: 1.17

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

I don't think the evidence linking this to the intended phenotype for this panel is compelling. However, we do report de novo variants in the context of epileptic enceophalopathy.
Created: 22 Feb 2017, 3:38 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

I don't think the evidence linking this to the intended phenotype for this panel is compelling. However, we do report de novo variants in the context of epileptic enceophalopathy.
Created: 22 Feb 2017, 3:31 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as red as currently one one patient reported with the relevant phenotype
Created: 2 Feb 2017, 3:47 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Mutations in this gene typically cause epilepsy. One mutation described in one sporadic patient with myokymia.
Created: 11 Jan 2017, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myokymia

Publications

Ellen McDonagh (Genomics England Curator)

This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 3:05 p.m.

History Filter Activity

8 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kcnq2 has been classified as Red List (Low Evidence).

22 Feb 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KCNQ2 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen