Genopathy
Gene-Disorder Association · Article
Gene
REEP1
Receptor Accessory Protein 1
Disorder
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
First reported 2002
Supporting publications 1
Key publication · disorder Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.Neuromuscular disorders : NMD · 2002
Manually curated
Association Review

In brief

The association between REEP1 (Receptor Accessory Protein 1) and Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 19
Symptoms 14
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

3 sources

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

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03
REEP1

The gene

1 source summary

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

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04
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12

The disorder

6 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

7 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

6 references

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

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