Gene Symbol:
SCN4A
HGNC:10591
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q23.3
Filters:

Definitive classifications

hypokalemic periodic paralysis, type 1
Submitted as: OMIM:170400
AD
07/22/2015
Evaluated
09/11/2023
Submitted
paramyotonia congenita of Von Eulenburg
Submitted as: OMIM:168300
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
SCN4A-related myopathy, autosomal recessive
AR
06/30/2021
Evaluated
12/02/2022
Submitted
hyperkalemic periodic paralysis
Submitted as: OMIM:170500
AD
07/22/2015
Evaluated
09/11/2023
Submitted
SCN4A-related myopathy, autosomal recessive
AR
05/13/2021
Evaluated
04/21/2024
Submitted
paramyotonia congenita of Von Eulenburg
Submitted as: OMIM:168300
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

hyperkalemic periodic paralysis
Submitted as: OMIM:170500
AD
12/24/2020
Evaluated
03/31/2021
Submitted
congenital myopathy
AR
12/24/2020
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 16
Submitted as: OMIM:614198
AR
10/26/2020
Evaluated
12/30/2020
Submitted
hypokalemic periodic paralysis, type 2
Submitted as: OMIM:613345
AD
12/24/2020
Evaluated
03/31/2021
Submitted
congenital myopathy 22A, classic
Submitted as: OMIM:620351
AR
07/17/2023
Evaluated
11/30/2023
Submitted
paramyotonia congenita of Von Eulenburg
Submitted as: OMIM:168300
AD
08/24/2022
Evaluated
11/30/2023
Submitted
hyperkalemic periodic paralysis
Submitted as: OMIM:170500
AD
01/18/2023
Evaluated
11/30/2023
Submitted
congenital myasthenic syndrome 16
Submitted as: OMIM:614198
AR
01/29/2021
Evaluated
03/31/2021
Submitted
hypokalemic periodic paralysis, type 2
Submitted as: OMIM:613345
AD
03/27/2023
Evaluated
11/30/2023
Submitted
paramyotonia congenita of Von Eulenburg
Submitted as: OMIM:168300
AD
12/24/2020
Evaluated
03/31/2021
Submitted
potassium-aggravated myotonia
Submitted as: OMIM:608390
AD
04/20/2022
Evaluated
11/30/2023
Submitted
congenital myasthenic syndrome 16
Submitted as: OMIM:614198
AR
07/03/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

myotonia permanens
Submitted as: Orphanet:99735
AD
09/14/2021
Evaluated
09/14/2021
Submitted
acetazolamide-responsive myotonia
Submitted as: Orphanet:99736
AD
09/14/2021
Evaluated
09/14/2021
Submitted
myotonia fluctuans
Submitted as: Orphanet:99734
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hyperkalemic periodic paralysis
Submitted as: Orphanet:682
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypokalemic periodic paralysis
Submitted as: Orphanet:681
AD
09/14/2021
Evaluated
09/14/2021
Submitted
paramyotonia congenita of Von Eulenburg
Submitted as: Orphanet:684
AD
09/14/2021
Evaluated
09/14/2021
Submitted
postsynaptic congenital myasthenic syndrome
Submitted as: Orphanet:98913
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

congenital myasthenic syndrome 16
Submitted as: OMIM:614198
AR
02/07/2022
Evaluated
11/30/2023
Submitted

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