Genopathy
Gene-Disorder Association · Article
Gene
MTMR2
Myotubularin Related Protein 2
Disorder
Charcot-Marie-Tooth Disease Type 4b1
First reported 2003
Supporting publications 6
Key publication · gene–disorder Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.Human molecular genetics · 2003
Key publication · disorder Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.Nature genetics · 2000
Manually curated
Association Review

In brief

The association between MTMR2 (Myotubularin Related Protein 2) and Charcot-Marie-Tooth Disease Type 4b1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 117
Symptoms 1
Compounds 0
Trials 0
Publications 6
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
MTMR2

The gene

1 source summary

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

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04
Charcot-Marie-Tooth Disease Type 4b1

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
ClinVar and variant evidence

Genetic basis

117 clinical variants

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

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06
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

16 references

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

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