Genopathy
Gene-Disorder Association · Article
Gene
MESP2
Mesoderm Posterior BHLH Transcription Factor 2
Disorder
Spondylocostal Dysostosis 2, Autosomal Recessive
First reported 2008
Supporting publications 2
Key publication · gene–disorder Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.American journal of human genetics · 2008
Key publication · disorder Spondylothoracic dysostosis: report of two cases and review of the literature.Archives of pathology & laboratory medicine · 1978
Manually curated
Association Review

In brief

The association between MESP2 (Mesoderm Posterior BHLH Transcription Factor 2) and Spondylocostal Dysostosis 2, Autosomal Recessive is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 118
Symptoms 15
Compounds 0
Trials 0
Publications 2
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
MESP2

The gene

1 source summary

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

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04
Spondylocostal Dysostosis 2, Autosomal Recessive

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

8 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

118 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

1 shared pathway

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

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08
Literature

Reading

2 publications

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

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09
Provenance

References & sources

11 references

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

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