Genopathy
Gene-Disorder Association · Article
Gene
RRM2B
Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B
Disorder
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
First reported 2009
Supporting publications 5
Key publication · gene–disorder A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.American journal of human genetics · 2009
Key publication · disorder Neurological disorders due to mutations of the mitochondrial genome.Neuromuscular disorders : NMD · 1991
Manually curated
Association Review

In brief

The association between RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B) and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 130
Symptoms 32
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
RRM2B

The gene

1 source summary

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

Request access
04
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

17 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

130 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

5 publications

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

Request access
09
Provenance

References & sources

10 references

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

Request access