TREX1

Chr 3ADAR

three prime repair exonuclease 1

Also known as: AGS1, CRV, DRN3, HERNS, RVCLS

NCBI Gene: 11277 ENSG00000213689 UniProt: Q9NSU2 OMIM: 606609

TREX1 encodes a 3'-to-5' DNA exonuclease that degrades cytosolic DNA fragments to prevent inappropriate activation of innate immune signaling pathways. Mutations cause Aicardi-Goutières syndrome (typically early-onset encephalopathy with calcifications and chronic CSF lymphocytosis), chilblain lupus, retinal vasculopathy with cerebral leukoencephalopathy, and systemic lupus erythematosus susceptibility. The gene shows both autosomal dominant and autosomal recessive inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Systemic lupus erythematosus, susceptibility to}MIM #152700

Aicardi-Goutieres syndrome 1, dominant and recessiveMIM #225750

ADAR

Chilblain lupusMIM #610448

Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsMIM #192315

UniProtChilblain lupus 1

Clinical highlights

Gene-disease validity (ClinGen)

TREX1-related type 1 interferonopathy · ARDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

121

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

LOF

Mechanism· G2P

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