Genopathy
Gene-Disorder Association · Article
Gene
PLA2G6
Phospholipase A2 Group VI
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 PLA2G6 (Phospholipase A2 Group VI) 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
PLA2G6

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
Provenance

References & sources

3 references

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

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