Genopathy
Gene-Disorder Association · Article
Gene
MYH7
Myosin Heavy Chain 7
Disorder
Congenital Myopathy 7b, Myosin Storage, Autosomal Recessive
First reported 2004
Supporting publications 12
Key publication · gene–disorder Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.Neuromuscular disorders : NMD · 2004
Key publication · disorder A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis.Archives of neurology · 1984
Manually curated
Association Review

In brief

The association between MYH7 (Myosin Heavy Chain 7) and Congenital Myopathy 7b, Myosin Storage, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 252
Symptoms 55
Compounds 0
Trials 0
Publications 12
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
MYH7

The gene

2 source summaries

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

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04
Congenital Myopathy 7b, Myosin Storage, Autosomal Recessive

The disorder

10 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

30 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

252 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

12 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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