Genopathy
Gene-Disorder Association · Article
Gene
TREX1
Three Prime Repair Exonuclease 1
Disorder
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
First reported 1978
Supporting publications 49
Key publication · disorder Hereditary aspects of decreased hypoxic response.The Journal of clinical investigation · 1978
Manually curated
Association Review

In brief

The association between TREX1 (Three Prime Repair Exonuclease 1) and Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 516
Symptoms 93
Compounds 0
Trials 0
Publications 49
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

4 sources

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

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03
TREX1

The gene

1 source summary

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

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04
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

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

71 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

516 clinical variants

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

49 publications

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

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09
Provenance

References & sources

15 references

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

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