Genomics England

KCNQ2

potassium voltage-gated channel subfamily Q member 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720, developmental and epileptic encephalopathy, 7, MONDO:0013387, Myokymia, OMIM:121200, Seizures, benign neonatal, 1, OMIM:121200, seizures, benign familial neonatal, 1, MONDO:0007365
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720, BENIGN NEONATAL EPILEPSY TYPE 1 121200
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720, Seizures, benign neonatal, 1, OMIM:121200
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Early infantile encephalopathy 7, 613720, Myokymia, 121200
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720