Epileptic encephalopathy
Gene: KCNQ2EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Dedek et al (2003) Epilepsy Res 54: 21-27
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Dedek et al (2003) Epilepsy Res 54: 21-27
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Dedek et al (2003) Epilepsy Res 54: 21-27
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Dedek et al (2003) Epilepsy Res 54: 21-27
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all reviewers agree.Created: 20 Jan 2016, 12:28 p.m.
Comment on mode of inheritance: Monoallelic confirmed for both EBN1 and EIEE7 phenotypes on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:28 p.m.
Comment on phenotypes: Sourced from G2P and OMIM.Created: 20 Jan 2016, 12:27 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- 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
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1); EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7); Epileptic encephalopathy, early infantile, 7; Myokymia; Seizures, benign neonatal, 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KCNQ2 were set to Dedek et al (2003) Epilepsy Res 54: 21-27
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)KCNQ2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert