Genomics England

KCNA2

potassium voltage-gated channel subfamily A member 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366, developmental and epileptic encephalopathy, 32 MONDO:0014607
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 Signed-off version 9.56	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, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Early infantile encephalopathy 32, 616366
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hereditary spastic paraplegia and ataxia
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes hereditary spastic paraplegia and ataxia
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes EPILEPTIC ENCEPHALOPATHY.