Genopathy
Gene-Disorder Association · Article
Gene
SH3TC2
SH3 Domain And Tetratricopeptide Repeats 2
Disorder
Charcot-Marie-Tooth Disease Type 4c
First reported 2003
Supporting publications 36
Key publication · gene–disorder Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.American journal of human genetics · 2003
Key publication · disorder [Genetic study of the autosomal recessive form of Charcot-Marie-Tooth in an Algerian family].Archives de l'Institut Pasteur d'Algerie. Institut Pasteur d'Algerie · 1998
Manually curated
Association Review

In brief

The association between SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) and Charcot-Marie-Tooth Disease Type 4c 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 644
Symptoms 53
Compounds 0
Trials 0
Publications 36
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
SH3TC2

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 4c

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
Phenotype

Clinical features

51 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

644 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

36 publications

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

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09
Provenance

References & sources

15 references

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

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