Epileptic encephalopathy
Gene: KCNQ2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
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
Publications for KCNQ2 were set to Dedek et al (2003) Epilepsy Res 54: 21-27
Mode of inheritance for KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
KCNQ2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Model of inheritance for gene KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene KCNQ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
KCNQ2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert