Genopathy
Gene-Disorder Association · Article
Gene
EPS8L2
EPS8 Signaling Adaptor L2
Disorder
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
First reported 2002
Key publication · disorder Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.Archives of neurology · 2002
Manually curated
Association Review

In brief

The association between EPS8L2 (EPS8 Signaling Adaptor L2) and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 34
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
EPS8L2

The gene

1 source summary

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

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04
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

22 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

6 references

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

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