Genopathy
Gene-Disorder Association · Article
Gene
POLR3A
RNA Polymerase III Subunit A
Disorder
Leukodystrophy
First reported 2011
Supporting publications 6
Key publication · gene–disorder Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.American journal of human genetics · 2011
Key publication · disorder [Familial leukodystrophy and spleno-hepatic determination characterizing a general metabolic disorder].Revue neurologique · 1954
Manually curated
Association Review

In brief

The association between POLR3A (RNA Polymerase III Subunit A) and Leukodystrophy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 46
Symptoms 10
Compounds 0
Trials 0
Publications 6
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
POLR3A

The gene

1 source summary

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

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04
Leukodystrophy

The disorder

7 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

46 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

6 publications

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

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07
Provenance

References & sources

10 references

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

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