Brain channelopathy
Gene: KCNQ2
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked a green as suggested by the expert reviewer Dr Matthews (UCL Institute of Neurology)Created: 22 Feb 2017, 2:22 p.m.
Associated with the phenotype in OMIM. The gene was suggested by the expert Dr Matthews (UCL Insitute of Neurology)Created: 21 Feb 2017, 5:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myokymia, 121200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myokymia, 121200
- OMIM
- 602235
- Clinvar variants
- Variants in KCNQ2
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)KCNQ2 was created by arianna
21 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)KCNQ2 was added to Brain channelopathypanel. Sources: Expert list