Genopathy
Gene-Disorder Association · Article
Gene
RYR1
Ryanodine Receptor 1
Disorder
Congenital Myopathy 1a, Autosomal Dominant, With Malignant Hyperthermia
First reported 1987
Supporting publications 45
Key publication · gene–disorder Central core disease. Clinical features in 13 patients.Medicine · 1987
Key publication · disorder A new congenital non-progressive myopathy.Brain : a journal of neurology · 1956
Manually curated
Association Review

In brief

The association between RYR1 (Ryanodine Receptor 1) and Congenital Myopathy 1a, Autosomal Dominant, With Malignant Hyperthermia is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 1,164
Symptoms 59
Compounds 0
Trials 0
Publications 45
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
RYR1

The gene

1 source summary

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

Request access
04
Congenital Myopathy 1a, Autosomal Dominant, With Malignant Hyperthermia

The disorder

16 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

31 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

1,164 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

45 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access