Genopathy
Gene-Disorder Association · Article
Gene
POLG
DNA Polymerase Gamma, Catalytic Subunit
Disorder
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
First reported 2003
Supporting publications 36
Key publication · gene–disorder Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.Neuromuscular disorders : NMD · 2003
Key publication · disorder Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.Journal of neurology, neurosurgery, and psychiatry · 1978
Manually curated
Association Review

In brief

The association between POLG (DNA Polymerase Gamma, Catalytic Subunit) and Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 214
Symptoms 109
Compounds 0
Trials 0
Publications 36
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

5 sources

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

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03
POLG

The gene

1 source summary

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

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04
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

The disorder

21 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

76 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

214 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

36 publications

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

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09
Provenance

References & sources

17 references

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

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