Gene Symbol:
SCN8A
HGNC:10596
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Filters:

Definitive classifications

cognitive impairment with or without cerebellar ataxia
Submitted as: OMIM:614306
AD
07/22/2015
Evaluated
11/25/2020
Submitted
developmental and epileptic encephalopathy, 13
Submitted as: OMIM:614558
AD
07/22/2015
Evaluated
11/25/2020
Submitted
complex neurodevelopmental disorder
AD
07/18/2018
Evaluated
08/16/2021
Submitted
developmental and epileptic encephalopathy, 13
Submitted as: OMIM:614558
AD
02/23/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

benign familial infantile epilepsy
Submitted as: Orphanet:306
AD
09/14/2021
Evaluated
09/14/2021
Submitted
infantile convulsions and choreoathetosis
Submitted as: Orphanet:31709
AD
09/14/2021
Evaluated
09/14/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: Orphanet:442835
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

cognitive impairment with or without cerebellar ataxia
Submitted as: OMIM:614306
AD
05/14/2018
Evaluated
09/28/2021
Submitted
myoclonus, familial, 2
Submitted as: OMIM:618364
AD
06/12/2018
Evaluated
09/28/2021
Submitted

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