Genopathy
Gene-Disorder Association · Article
Gene
PMP2
Peripheral Myelin Protein 2
Disorder
Charcot-Marie-Tooth Disease Type 1g
First reported 2023
Supporting publications 1
Key publication · disorder A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature.Children (Basel, Switzerland) · 2023
Manually curated
Association Review

In brief

The association between PMP2 (Peripheral Myelin Protein 2) and Charcot-Marie-Tooth Disease Type 1g is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
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.

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
PMP2

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease Type 1g

The disorder

5 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

4 references

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

Request access