Genopathy
Gene-Disorder Association · Article
Gene
LOC111721705
Skeletal Muscle Cis-Regulatory Module Overlapping ZEB2
Disorder
Mowat-Wilson Syndrome
First reported 2002
Supporting publications 3
Key publication · gene–disorder "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.American journal of medical genetics · 2002
Key publication · disorder Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.Journal of medical genetics · 1988
Manually curated
Association Review

In brief

The association between LOC111721705 (Skeletal Muscle Cis-Regulatory Module Overlapping ZEB2) and Mowat-Wilson Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 35
Symptoms 248
Compounds 0
Trials 0
Publications 3
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

1 source

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

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03
LOC111721705

The gene

1 source summary

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

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04
Mowat-Wilson Syndrome

The disorder

18 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

205 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

35 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

10 references

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

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