Genopathy
Gene-Disorder Association · Article
Gene
VANGL1
VANGL Planar Cell Polarity Protein 1
Disorder
Sacral Defect With Anterior Meningocele
First reported 1959
Supporting publications 1
Key publication · disorder Partial and complete agenesis or malformation of the sacrum with associated anomalies; etiologic and clinical study with special reference to heredity; a preliminary report.The Journal of bone and joint surgery. American volume · 1959
Manually curated
Association Review

In brief

The association between VANGL1 (VANGL Planar Cell Polarity Protein 1) and Sacral Defect With Anterior Meningocele is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, causative variation, and a susceptibility locus.

Sources 5
Clinical variants 206
Symptoms 66
Compounds 0
Trials 0
Publications 1
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

5 sources

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

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03
VANGL1

The gene

1 source summary

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

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04
Sacral Defect With Anterior Meningocele

The disorder

17 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

48 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

206 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

1 publication

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

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09
Provenance

References & sources

10 references

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

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