Genopathy
Gene-Disorder Association · Article
Gene
WNT10A
Wnt Family Member 10A
Disorder
Schopf-Schulz-Passarge Syndrome
First reported 2009
Supporting publications 8
Key publication · gene–disorder WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.American journal of human genetics · 2009
Key publication · disorder Spontaneous slow potentials and spreading depression in amphibian retina.Journal of neurophysiology · 1977
Manually curated
Association Review

In brief

The association between WNT10A (Wnt Family Member 10A) and Schopf-Schulz-Passarge Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 126
Symptoms 32
Compounds 0
Trials 0
Publications 8
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

5 sources

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

Request access
03
WNT10A

The gene

1 source summary

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

Request access
04
Schopf-Schulz-Passarge Syndrome

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

25 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

126 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

8 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access