Genopathy
Gene-Disorder Association · Article
Gene
TNNC1
Troponin C1, Slow Skeletal And Cardiac Type
Disorder
Cardiomyopathy, Familial Hypertrophic, 13
First reported 2012
Supporting publications 20
Key publication · gene–disorder A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.The Journal of biological chemistry · 2012
Key publication · disorder [Subvalvular aortic stenosis, dysmorphic familial syndrome and peripheral muscular disease].Archives des maladies du coeur et des vaisseaux · 1977
Manually curated
Association Review

In brief

The association between TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type) and Cardiomyopathy, Familial Hypertrophic, 13 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 285
Symptoms 26
Compounds 0
Trials 0
Publications 20
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

4 sources

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

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03
TNNC1

The gene

1 source summary

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

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04
Cardiomyopathy, Familial Hypertrophic, 13

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

14 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

285 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

20 publications

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

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09
Provenance

References & sources

14 references

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

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