Genopathy
Gene-Disorder Association · Article
Gene
SCN5A
Sodium Voltage-Gated Channel Alpha Subunit 5
Disorder
Familial Sick Sinus Syndrome
First reported 1976
Key publication · disorder [Familial sick sinus syndrome. Observations on three cases studied (author's transl)].Giornale italiano di cardiologia · 1976
Manually curated
Association Review

In brief

The association between SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) and Familial Sick Sinus Syndrome is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

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

Association overview

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

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02
Provenance

Evidence and sources

2 sources

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

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03
SCN5A

The gene

2 source summaries

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

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04
Familial Sick Sinus Syndrome

The disorder

6 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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06
Population genetics

GWAS signals

2 GWAS phenotypes

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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07
Provenance

References & sources

6 references

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

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