Genomics England

SCN8A

sodium voltage-gated channel alpha subunit 8

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Seizures, benign familial infantile, 5, OMIM:617080, Paroxysmal kinesigenic dyskinesias
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Developmental and epileptic encephalopathy 13, OMIM:614558, Seizures, benign familial infantile, 5, OMIM:617080, ?Myoclonus, familial, 2, OMIM:618364
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306, Developmental and epileptic encephalopathy 13, OMIM:614558
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306, Developmental and epileptic encephalopathy 13, OMIM:614558