SCN8A

sodium voltage-gated channel alpha subunit 8
OMIM: 600702
PanelMode of inheritanceDetails
5 panels
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
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
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
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