Genopathy
Gene-Disorder Association · Article
Gene
SLC30A10
Solute Carrier Family 30 Member 10
Disorder
Classic Dopamine Transporter Deficiency Syndrome
First reported 2009
Key publication · disorder Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.The Journal of clinical investigation · 2009
Manually curated
Association Review

In brief

The association between SLC30A10 (Solute Carrier Family 30 Member 10) and Classic Dopamine Transporter Deficiency Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
SLC30A10

The gene

1 source summary

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

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04
Classic Dopamine Transporter Deficiency Syndrome

The disorder

6 database identifiers

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

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05
Provenance

References & sources

2 references

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

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