Genopathy
Gene-Disorder Association · Article
Gene
RARS2
Arginyl-TRNA Synthetase 2, Mitochondrial
Disorder
Pontocerebellar Hypoplasia, Type 6
First reported 2010
Supporting publications 9
Key publication · gene–disorder Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.American journal of medical genetics. Part A · 2010
Key publication · disorder Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus.Human immunology · 1986
Manually curated
Association Review

In brief

The association between RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial) and Pontocerebellar Hypoplasia, Type 6 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 256
Symptoms 53
Compounds 0
Trials 0
Publications 9
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
RARS2

The gene

1 source summary

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

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04
Pontocerebellar Hypoplasia, Type 6

The disorder

12 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

38 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

256 clinical variants

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

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07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

9 publications

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

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10
Provenance

References & sources

18 references

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

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