Gene Symbol:
SCN5A
HGNC:10593
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p22.2
Filters:

Ambry Genetics classifications

progressive familial heart block, type 1A
Submitted as: OMIM:113900
SD
04/02/2018
Evaluated
12/24/2020
Submitted
long QT syndrome 3
Submitted as: OMIM:603830
AD
04/02/2018
Evaluated
12/24/2020
Submitted
Brugada syndrome 1
Submitted as: OMIM:601144
AD
04/02/2018
Evaluated
12/24/2020
Submitted
dilated cardiomyopathy 1E
Submitted as: OMIM:601154
AD
11/09/2021
Evaluated
08/19/2023
Submitted

ClinGen classifications

arrhythmogenic right ventricular cardiomyopathy
AD
06/06/2019
Evaluated
04/21/2024
Submitted
dilated cardiomyopathy
AD
11/06/2020
Evaluated
04/21/2024
Submitted
familial long QT syndrome
AD
09/25/2018
Evaluated
04/21/2024
Submitted
catecholaminergic polymorphic ventricular tachycardia
AD
01/20/2021
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

Brugada syndrome 1
Submitted as: OMIM:601144
AD
03/02/2021
Evaluated
03/31/2021
Submitted
progressive familial heart block, type 1A
Submitted as: OMIM:113900
AD
08/20/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

long QT syndrome 3
Submitted as: OMIM:603830
AD
01/17/2023
Evaluated
11/30/2023
Submitted
Brugada syndrome 1
Submitted as: OMIM:601144
AD
06/18/2023
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy 1E
Submitted as: OMIM:601154
AD
04/20/2022
Evaluated
11/30/2023
Submitted
sick sinus syndrome 1
Submitted as: OMIM:608567
AR
04/05/2023
Evaluated
11/30/2023
Submitted
sick sinus syndrome 1
Submitted as: OMIM:608567
AD
04/05/2023
Evaluated
11/30/2023
Submitted

Laboratory for Molecular Medicine classifications

Brugada syndrome 1
Submitted as: OMIM:601144
AD
04/15/2020
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

Orphanet classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
progressive familial heart block
Submitted as: Orphanet:871
AD
09/14/2021
Evaluated
09/14/2021
Submitted
atrial standstill
Submitted as: Orphanet:1344
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Brugada syndrome
Submitted as: Orphanet:130
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial sick sinus syndrome
Submitted as: Orphanet:166282
AD
09/14/2021
Evaluated
09/14/2021
Submitted
paroxysmal familial ventricular fibrillation
Submitted as: Orphanet:228140
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

AD
04/25/2022
Evaluated
09/11/2023
Submitted
AD
04/25/2022
Evaluated
09/11/2023
Submitted

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