Genopathy
Gene-Disorder Association · Article
Gene
CHRND
Cholinergic Receptor Nicotinic Delta Subunit
Disorder
Myasthenic Syndrome, Congenital, 3a, Slow-Channel
First reported 1999
Supporting publications 1
Key publication · disorder Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?American journal of human genetics · 1999
Manually curated
Association Review

In brief

The association between CHRND (Cholinergic Receptor Nicotinic Delta Subunit) and Myasthenic Syndrome, Congenital, 3a, Slow-Channel is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 19
Symptoms 24
Compounds 0
Trials 0
Publications 1
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
CHRND

The gene

1 source summary

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

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04
Myasthenic Syndrome, Congenital, 3a, Slow-Channel

The disorder

7 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

12 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

19 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

1 publication

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

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09
Provenance

References & sources

7 references

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

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