Skeletal Muscle Channelopathies
Gene: KCNQ2Comment 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 compellingCreated: 8 Nov 2019, 2:44 p.m. | Last Modified: 8 Nov 2019, 2:44 p.m.
Panel Version: 1.17
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
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
Comment when marking as ready: Marked as red as currently one one patient reported with the relevant phenotypeCreated: 2 Feb 2017, 3:47 p.m.
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
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.
Gene: kcnq2 has been classified as Red List (Low Evidence).
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
KCNQ2 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen