KCNQ2

potassium voltage-gated channel subfamily Q member 2
OMIM: 602235, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red KCNQ2 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Epileptic encephalopathy, early infantile, 7, 613720
Green KCNQ2 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myokymia, 121200
Red KCNQ2 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Red KCNQ2 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green KCNQ2 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Myokymia, 121200 Seizures, benign neonatal, 1, 121200 Epileptic encephalopathy, early infantile, 7, 613720
Red KCNQ2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Myokymia, 121200
Red KCNQ2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes BENIGN NEONATAL EPILEPSY TYPE 1 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7
Green KCNQ2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 BENIGN NEONATAL EPILEPSY TYPE 1 121200
Green KCNQ2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 Seizures, benign neonatal, 1, OMIM:121200
Green KCNQ2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720
Green KCNQ2 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200
Red KCNQ2 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Myokymia, 121200
Green KCNQ2 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green PanelApp London North GLH 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 Tags Q3_23_demote_red Q3_23_expert_review
Green KCNQ2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Myokymia, 121200