Genopathy
Gene-Disorder Association · Article
Gene
ACTA1
Actin Alpha 1, Skeletal Muscle
Disorder
Actin-Accumulation Myopathy
First reported 1997
Supporting publications 73
Key publication · gene–disorder Congenital myopathy with excess of thin myofilaments.Neuromuscular disorders : NMD · 1997
Key publication · disorder Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA.Journal of the neurological sciences · 1990
Manually curated
Association Review

In brief

The association between ACTA1 (Actin Alpha 1, Skeletal Muscle) and Actin-Accumulation Myopathy is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 435
Symptoms 3
Compounds 0
Trials 0
Publications 73
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

3 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
Actin-Accumulation Myopathy

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

435 clinical variants

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

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06
Literature

Reading

73 publications

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

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07
Provenance

References & sources

14 references

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

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