Skeletal Muscle Channelopathies
Gene: KCNQ2EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 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 compellingCreated: 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)
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)
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 phenotypeCreated: 2 Feb 2017, 3:47 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
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.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Seizures, benign neonatal, 1, 121200
- Myokymia, 121200
- Epileptic encephalopathy, early infantile, 7, 613720
- OMIM
- 602235
- Clinvar variants
- Variants in KCNQ2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Early onset dystonia
- DDG2P
- Intellectual disability
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: kcnq2 has been classified as Red List (Low Evidence).
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)KCNQ2 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen