TREX1-related type 1 interferonopathy
MONDO:0700256Mondo
Findings
No curated finding names TREX1-related type 1 interferonopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Definition from the Mondo Disease Ontology (MONDO:0700256), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TREX1HGNC:12269
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal dominant · 2026