Genopathy
Gene-Disorder Association · Article
Gene
SOX10
SRY-Box Transcription Factor 10
Disorder
Leukodystrophy
First reported 2006
Supporting publications 4
Key publication · gene–disorder Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2006
Key publication · disorder [Familial leukodystrophy and spleno-hepatic determination characterizing a general metabolic disorder].Revue neurologique · 1954
Manually curated
Association Review

In brief

The association between SOX10 (SRY-Box Transcription Factor 10) and Leukodystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 4
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
SOX10

The gene

1 source summary

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

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04
Leukodystrophy

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
Literature

Reading

4 publications

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

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06
Provenance

References & sources

7 references

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

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