Genopathy
Gene-Disorder Association · Article
Gene
ACTN2
Actinin Alpha 2
Disorder
Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction
First reported 2003
Supporting publications 16
Key publication · disorder Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.Molecular genetics and metabolism · 2003
Manually curated
Association Review

In brief

The association between ACTN2 (Actinin Alpha 2) and Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 1,286
Symptoms 27
Compounds 0
Trials 0
Publications 16
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
ACTN2

The gene

1 source summary

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

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04
Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction

The disorder

9 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

12 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

1,286 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

16 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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