Genopathy
Gene-Disorder Association · Article
Gene
CHRNE
Cholinergic Receptor Nicotinic Epsilon Subunit
Disorder
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency
First reported 1996
Supporting publications 20
Key publication · gene–disorder End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.Annals of neurology · 1996
Key publication · disorder Familial infantile myasthenia.Archives of neurology · 1980
Manually curated
Association Review

In brief

The association between CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit) and Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 99
Symptoms 51
Compounds 0
Trials 0
Publications 20
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

5 sources

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

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03
CHRNE

The gene

1 source summary

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

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04
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

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

27 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

99 clinical variants

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

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07
Genomic context

Regulatory context

2 regulatory elements

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

20 publications

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

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10
Provenance

References & sources

17 references

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

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