TREX1

Curated reports relevant to this gene

• Aicardi-Goutieres Syndrome

  • TREX1-related type 1 interferonopathy

    TREX1 variants causing Aicardi-Goutieres syndrome and related interferon-driven disease.

    • ClinGen rates the link definitive
    • 6 GenCC submitters rate it definitive or strong
  • Autosomal recessive

    Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

    • 4 GenCC submitters rate it definitive or strong

• Autoimmune Disease

  • A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).

    • 3 GenCC submitters rate it definitive or strong

• Rare Monogenic Autoinflammatory Diseases

  • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

    Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

    • ClinGen rates the link definitive
    • 6 GenCC submitters rate it definitive or strong

• Systemic Lupus Erythematosus

  • An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.

    • 1 GenCC submitter rates it definitive or strong

    What knowing changes

    Standard SLE: hydroxychloroquine, mycophenolate, belimumab, anifrolumab; Complement-deficient lupus: FFP replacement; Interferonopathy: anifrolumab, JAK inhibitors; All: sun protection, cardiovascular risk management, pregnancy planning

• Type I Interferonopathies

  • Retinal vasculopathy with cerebral leukoencephalopathy (RVCL-S)Autosomal dominant

    Adult-onset damage to small blood vessels of the eye, brain, kidney and liver caused by specific TREX1 variants.

    • ClinGen rates the link definitive
    • 4 GenCC submitters rate it definitive or strong
  • Familial chilblain lupusAutosomal dominant

    Painful, cold-induced skin lesions on the fingers, toes, ears and nose beginning in childhood, caused by variants in TREX1 or SAMHD1.

    • 3 GenCC submitters rate it definitive or strong

Broader groupings

• Other Inborn Errors of Immunity

  • Inborn error of immunity

    One of 114 genes linked to it

    Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

    • 4 GenCC submitters rate it definitive or strong

• Other Inherited Leukodystrophies

  • Leukodystrophy (other and unspecified types)

    One of 80 genes linked to it

    Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

    • 4 GenCC submitters rate it definitive or strong

    What knowing changes

    Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

How TREX1 is laid out

Exons make up 1.1 kb of the gene's 1.4 kb; 945 of those bases code for the protein.

How a genome test reads TREX1

Genes linked to the same conditions

• ADARadenosine deaminase RNA specificShares 4 conditions
• IFIH1interferon induced with helicase C domain 1Shares 4 conditions
• RNASEH2Aribonuclease H2 subunit AShares 4 conditions
• RNASEH2Bribonuclease H2 subunit BShares 4 conditions
• RNASEH2Cribonuclease H2 subunit CShares 4 conditions
• RNU7-1RNA, U7 small nuclear 1Shares 4 conditions
• SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1Shares 4 conditions
• C1QAcomplement C1q A chainShares 3 conditions
• PRKCDprotein kinase C deltaShares 3 conditions
• CASP10caspase 10Shares 2 conditions
• CASP8caspase 8Shares 2 conditions
• CTLA4cytotoxic T-lymphocyte associated protein 4Shares 2 conditions

Traits linked to TREX1

The Human Phenotype Ontology lists these as features of the rare conditions TREX1 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

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