Genopathy
Gene-Disorder Association · Article
Gene
MT-TL1
Mitochondrially Encoded TRNA-Leu (UUA/G) 1
Disorder
Leigh Syndrome, Mitochondrial
First reported 1963
Supporting publications 69
Key publication · disorder ["FEATURES OF THE INTELLIGENCE" OF CHILDREN AND ADOLESCENTS WITH HEARING DISORDERS AND DEAFNESS. PRELIMINARY REPORT ON AN EMPIRICAL EXAMINATION AT THE ENT CLINIC IN INNSBRUCK AND THE REGIONAL SCHOOL FOR THE DEAF IN MILS].Monatsschrift fur Ohrenheilkunde und Laryngo-Rhinologie · 1963
Manually curated
Association Review

In brief

The association between MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1) and Leigh Syndrome, Mitochondrial is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 1
Symptoms 57
Compounds 0
Trials 0
Publications 69
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
MT-TL1

The gene

1 source summary

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

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04
Leigh Syndrome, Mitochondrial

The disorder

8 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

56 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

1 clinical variant

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

69 publications

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

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09
Provenance

References & sources

13 references

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

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