Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: genes and variants
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is linked to 1 analyzed protein (TREX1). 3 DNA variants are known to cause it; 249 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
TREX1: Three-prime repair exonuclease 1
It degrades aberrant cytosolic DNA and prevents inappropriate activation of the cGAS-STING interferon pathway. Pathogenic variants cause interferon-mediated diseases including Aicardi-Goutieres syndrome and familial chilblain lupus, and certain alleles cause retinal vasculopathy with cerebral leukoencephalopathy.
3 disease-causing and 249 uncertain variants in TREX1 are linked to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Known disease-causing variants in Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TREX1 R114H | 114 | Disease-causing (★★★★) | |
| TREX1 D18N | 18 | Disease-causing (★★) | |
| TREX1 D200N | 200 | Disease-causing (★) |
Diseases related to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Fetal anomalies with a likely genetic cause, also linked to TREX1
- Aicardi-Goutieres syndrome, also linked to TREX1
- Systemic lupus erythematosus, also linked to TREX1
- Chilblain lupus, also linked to TREX1
Frequently asked questions
Which genes are linked to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations?
In CATVariant, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is linked to 1 analyzed protein: TREX1 (Three-prime repair exonuclease 1).
How many genetic variants are linked to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations?
276 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 249 are of uncertain significance or have conflicting reports.
Which uncertain variants in Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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