SCN8A

sodium voltage-gated channel alpha subunit 8
OMIM: 600702
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 1.137
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, Intellectual disability, Epileptic encephalopathy, early infantile, 13
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
epilepsy, paroxysmal kinesigenic dyskinesias, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080, Cognitive impairment with or without cerebellar ataxia, 614306
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, 614306Epileptic encephalopathy, early infantile, 13, 614558, COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA