Genopathy
Gene-Disorder Association · Article
Gene
CACNA1S
Calcium Voltage-Gated Channel Subunit Alpha1 S
Disorder
Malignant Hyperthermia
First reported 2009
Supporting publications 8
Key publication · gene–disorder The role of CACNA1S in predisposition to malignant hyperthermia.BMC medical genetics · 2009
Key publication · disorder [Postoperative malignant hyperthermia].Boletines y trabajos. Sociedad de Cirugia de Buenos Aires (1953) · 1957
Manually curated
Association Review

In brief

The association between CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S) and Malignant Hyperthermia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a susceptibility locus.

Sources 3
Clinical variants 32
Symptoms 27
Compounds 0
Trials 0
Publications 8
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
CACNA1S

The gene

2 source summaries

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

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04
Malignant Hyperthermia

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

23 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

32 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

8 publications

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

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09
Provenance

References & sources

16 references

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

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