Genopathy
Gene-Disorder Association · Article
Gene
WNT4
Wnt Family Member 4
Disorder
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
First reported 2008
Supporting publications 1
Key publication · gene–disorder SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.American journal of human genetics · 2008
Key publication · disorder Female development in mammals is regulated by Wnt-4 signalling.Nature · 1999
Manually curated
Association Review

In brief

The association between WNT4 (Wnt Family Member 4) and 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 47
Symptoms 51
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
WNT4

The gene

1 source summary

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

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04
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs

The disorder

8 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

24 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

47 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

9 references

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

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