Genomics England

KCNA2

potassium voltage-gated channel subfamily A member 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hereditary spastic paraplegia and ataxia
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366, developmental and epileptic encephalopathy, 32 MONDO:0014607
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes hereditary spastic paraplegia and ataxia
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 Loss-of-function, EPILEPTIC ENCEPHALOPATHY Gain-of-function
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, imprinted status unknown	Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366, developmental and epileptic encephalopathy, 32 MONDO:0014607
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 32, 616366
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 EPILEPTIC ENCEPHALOPATHY.