Genopathy
Gene-Disorder Association · Article
Gene
EPG5
Ectopic P-Granules 5 Autophagy Tethering Factor
Disorder
Neurodevelopmental Disorder With Parkinsonism Or Other Movement Abnormalities
First reported 2022
Key publication · disorder Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022
Manually curated
Association Review

In brief

The association between EPG5 (Ectopic P-Granules 5 Autophagy Tethering Factor) and Neurodevelopmental Disorder With Parkinsonism Or Other Movement Abnormalities is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

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
EPG5

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Parkinsonism Or Other Movement Abnormalities

The disorder

3 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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