Gene Symbol:
SCN1A
HGNC:10585
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q24.3
Filters:

Arthrogryposis classifications

AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missen... Read more

Developmental and epileptic encephalopathy classifications

developmental and epileptic encephalopathy
AD
10/25/2019
Evaluated
10/18/2023
Submitted

Developmental and epileptic encephalopathy, 6 classifications

developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
07/22/2015
Evaluated
09/11/2023
Submitted
developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
08/05/2015
Evaluated
12/24/2020
Submitted
developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
06/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
02/20/2023
Evaluated
11/30/2023
Submitted

Dravet syndrome classifications

Dravet syndrome
Submitted as: Orphanet:33069
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Dravet syndrome classifications

Familial hemiplegic migraine classifications

familial hemiplegic migraine
AD
09/14/2021
Evaluated
10/18/2023
Submitted

Familial or sporadic hemiplegic migraine classifications

familial or sporadic hemiplegic migraine
Submitted as: Orphanet:569
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Generalized epilepsy with febrile seizures plus classifications

generalized epilepsy with febrile seizures plus
Submitted as: Orphanet:36387
AD
09/14/2021
Evaluated
09/14/2021
Submitted
generalized epilepsy with febrile seizures plus
AD
09/06/2019
Evaluated
10/18/2023
Submitted

Generalized epilepsy with febrile seizures plus, type 2 classifications

generalized epilepsy with febrile seizures plus, type 2
Submitted as: OMIM:604403
AD
04/02/2018
Evaluated
12/24/2020
Submitted
generalized epilepsy with febrile seizures plus, type 2
Submitted as: OMIM:604403
AD
12/13/2022
Evaluated
11/30/2023
Submitted

Lennox-Gastaut syndrome classifications

Lennox-Gastaut syndrome
Submitted as: Orphanet:2382
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Malignant migrating partial seizures of infancy classifications

malignant migrating partial seizures of infancy
Submitted as: Orphanet:293181
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Migraine, familial hemiplegic, 3 classifications

migraine, familial hemiplegic, 3
Submitted as: OMIM:609634
AD
08/05/2015
Evaluated
12/24/2020
Submitted
migraine, familial hemiplegic, 3
Submitted as: OMIM:609634
AD
08/02/2023
Evaluated
11/30/2023
Submitted

Myoclonic-astatic epilepsy classifications

myoclonic-astatic epilepsy
Submitted as: Orphanet:1942
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.