Genopathy
Gene-Disorder Association · Article
Gene
CASQ1
Calsequestrin 1
Disorder
Myopathy, Tubular Aggregate, 1
First reported 2018
Supporting publications 2
Key publication · gene–disorder CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.Acta neuropathologica · 2018
Key publication · disorder MITOCHONDRIAL AGGREGATES IN MUSCLE DISEASE.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 1964
Manually curated
Association Review

In brief

The association between CASQ1 (Calsequestrin 1) and Myopathy, Tubular Aggregate, 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 4
Clinical variants 2
Symptoms 45
Compounds 0
Trials 0
Publications 2
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
CASQ1

The gene

1 source summary

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

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04
Myopathy, Tubular Aggregate, 1

The disorder

12 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

28 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

2 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

2 publications

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

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09
Provenance

References & sources

11 references

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

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