Genopathy
Gene-Disorder Association · Article
Gene
RAPSN
Receptor Associated Protein Of The Synapse
Disorder
Myasthenic Syndrome, Congenital, 8
First reported 1995
Key publication · disorder Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.Proceedings of the National Academy of Sciences of the United States of America · 1995
Manually curated
Association Review

In brief

The association between RAPSN (Receptor Associated Protein Of The Synapse) and Myasthenic Syndrome, Congenital, 8 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 23
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
RAPSN

The gene

1 source summary

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

Request access
04
Myasthenic Syndrome, Congenital, 8

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

9 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

5 references

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

Request access