Genopathy
Gene-Disorder Association · Article
Gene
SCN5A
Sodium Voltage-Gated Channel Alpha Subunit 5
Disorder
Arrhythmogenic Right Ventricular Cardiomyopathy
First reported 2008
Supporting publications 1
Key publication · gene–disorder Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2008
Key publication · disorder Arrhythmogenic right ventricular dysplasia: a cause of ventricular tachycardia in children with apparently normal hearts.American heart journal · 1981
Manually curated
Association Review

In brief

The association between SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) and Arrhythmogenic Right Ventricular Cardiomyopathy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 8
Symptoms 0
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
SCN5A

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Arrhythmogenic Right Ventricular Cardiomyopathy

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

8 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
07
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access