Gene Symbol:
SCN9A
HGNC:10597
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q24.3
Filters:

Definitive classifications

primary erythermalgia
Submitted as: OMIM:133020
AD
07/05/2018
Evaluated
09/11/2023
Submitted

Strong classifications

primary erythermalgia
Submitted as: OMIM:133020
AD
10/15/2020
Evaluated
03/31/2021
Submitted
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Submitted as: OMIM:243000
AR
05/22/2020
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
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Submitted as: OMIM:243000
AR
06/27/2023
Evaluated
11/30/2023
Submitted
generalized epilepsy with febrile seizures plus, type 7
Submitted as: OMIM:613863
AD
09/28/2021
Evaluated
11/30/2023
Submitted
paroxysmal extreme pain disorder
Submitted as: OMIM:167400
AD
09/07/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

hereditary sensory and autonomic neuropathy type 2
Submitted as: Orphanet:970
AR
09/14/2021
Evaluated
09/14/2021
Submitted
paroxysmal extreme pain disorder
Submitted as: Orphanet:46348
AD
09/14/2021
Evaluated
09/14/2021
Submitted
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Submitted as: Orphanet:88642
AD
09/14/2021
Evaluated
09/14/2021
Submitted
primary erythermalgia
Submitted as: Orphanet:90026
AD
09/14/2021
Evaluated
09/14/2021
Submitted
sodium channelopathy-related small fiber neuropathy
Submitted as: Orphanet:306577
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

AD
09/15/2020
Evaluated
10/15/2020
Submitted
generalized epilepsy with febrile seizures plus, type 7
Submitted as: OMIM:613863
AD
04/28/2020
Evaluated
12/24/2020
Submitted
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Submitted as: OMIM:243000
SD
10/22/2020
Evaluated
12/24/2020
Submitted

Refuted Evidence classifications

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.