This Panel is marked as Retired
Epilepsy Plus
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- UKGTN
- Phenotypes
-
- BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7)
- Epileptic encephalopathy, early infantile, 7
- Myokymia
- Seizures, benign neonatal, 1
- OMIM
- 602235
- Clinvar variants
- Variants in KCNQ2
- Penetrance
- Complete
- Publications
-
- Dedek et al (2003) Epilepsy Res 54: 21-27
- Panels with this gene
-
- Early onset dystonia
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KCNQ2 was created by ellenmcdonagh
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ2 was added to Epilepsy Pluspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert,Expert Review Green