Genopathy
Gene-Disorder Association · Article
Gene
SLC6A3
Solute Carrier Family 6 Member 3
Disorder
Classic Dopamine Transporter Deficiency Syndrome
First reported 2009
Supporting publications 3
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 SLC6A3 (Solute Carrier Family 6 Member 3) and Classic Dopamine Transporter Deficiency Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 41
Symptoms 0
Compounds 0
Trials 0
Publications 3
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

2 sources

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

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03
SLC6A3

The gene

2 source summaries

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
ClinVar and variant evidence

Genetic basis

41 clinical variants

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

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

7 references

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

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