KCNQ2

potassium voltage-gated channel subfamily Q member 2
OMIM: 602235
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myokymia, 121200, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720, BENIGN NEONATAL EPILEPSY TYPE 1 121200
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1), EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7), Epileptic encephalopathy, early infantile, 7, Myokymia, Seizures, benign neonatal, 1
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile encephalopathy 7, 613720, Myokymia, 121200
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720, BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720