KCNQ2

potassium voltage-gated channel subfamily Q member 2
OMIM: 602235
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myokymia, 121200, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 7, OMIM:613720, Seizures, benign neonatal, 1, OMIM:121200
R-numbers: R54
Signed-off version 3.1
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 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 7, OMIM:613720
R-numbers: R66
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720