Genopathy
Gene-Disorder Association · Article
Gene
LARS2-AS1
LARS2 Antisense RNA 1
Disorder
Perrault Syndrome 4
First reported 2013
Supporting publications 4
Key publication · gene–disorder Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.American journal of human genetics · 2013
Key publication · disorder The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.American journal of medical genetics · 1979
Manually curated
Association Review

In brief

The association between LARS2-AS1 (LARS2 Antisense RNA 1) and Perrault Syndrome 4 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 20
Symptoms 55
Compounds 0
Trials 0
Publications 4
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

1 source

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

Request access
03
LARS2-AS1

The gene

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

Request access
04
Perrault Syndrome 4

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

20 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

20 clinical variants

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

Request access
07
Literature

Reading

4 publications

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

Request access
08
Provenance

References & sources

7 references

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

Request access