KCNA2

potassium voltage-gated channel subfamily A member 2
OMIM: 176262, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber KCNA2 in Ataxia and cerebellar anomalies - narrow panel Version 2.300 Latest signed off version: v2.23 (8 Oct 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366 developmental and epileptic encephalopathy, 32 MONDO:0014607 Tags Q2_21_rating
Green KCNA2 in Hereditary spastic paraplegia - childhood onset Version 2.145 Latest signed off version: v2.18 (8 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes hereditary spastic paraplegia and ataxia
Green KCNA2 in Hereditary spastic paraplegia - adult onset Version 1.102 Latest signed off version: v1.27 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Hereditary spastic paraplegia and ataxia
Red KCNA2 in Fetal anomalies Version 1.900 Latest signed off version: v1.92 (21 Aug 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes EPILEPTIC ENCEPHALOPATHY.
Green KCNA2 in DDG2P Version 2.76 Latest signed off version: v2.2 (13 Feb 2020) 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 Loss-of-function EPILEPTIC ENCEPHALOPATHY Gain-of-function
Green KCNA2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Phenotypes Epileptic encephalopathy, early infantile, 32, 616366 Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Green KCNA2 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.563 Latest signed off version: v2.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366 developmental and epileptic encephalopathy, 32 MONDO:0014607
Green KCNA2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1659 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY.
Green KCNA2 in Hereditary ataxia - adult onset Version 2.158 Latest signed off version: v2.13 (6 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile encephalopathy 32, 616366
Amber KCNA2 in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Epileptic encephalopathy, early infantile, 32, 616366 Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Green KCNA2 in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 32, 616366