Genopathy
Gene-Disorder Association · Article
Gene
ACTA1
Actin Alpha 1, Skeletal Muscle
Disorder
Congenital Myopathy 2c, Severe Infantile, Autosomal Dominant
First reported 1997
Supporting publications 17
Key publication · disorder Congenital myopathy with excess of thin myofilaments.Neuromuscular disorders : NMD · 1997
Manually curated
Association Review

In brief

The association between ACTA1 (Actin Alpha 1, Skeletal Muscle) and Congenital Myopathy 2c, Severe Infantile, Autosomal Dominant 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 18
Symptoms 66
Compounds 0
Trials 0
Publications 17
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
ACTA1

The gene

2 source summaries

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

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04
Congenital Myopathy 2c, Severe Infantile, Autosomal Dominant

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

32 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

18 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

17 publications

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

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09
Provenance

References & sources

15 references

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

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