Genopathy
Gene-Disorder Association · Article
Gene
MFN2
Mitofusin 2
Disorder
Charcot-Marie-Tooth Disease Type 2a2b
First reported 2003
Supporting publications 16
Key publication · disorder Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.The Journal of cell biology · 2003
Manually curated
Association Review

In brief

The association between MFN2 (Mitofusin 2) and Charcot-Marie-Tooth Disease Type 2a2b is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 49
Symptoms 0
Compounds 0
Trials 0
Publications 16
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

2 sources

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

Request access
03
MFN2

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease Type 2a2b

The disorder

5 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

49 clinical variants

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

Request access
06
Literature

Reading

16 publications

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

Request access
07
Provenance

References & sources

12 references

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

Request access