Pseudo-TORCH syndrome 3: genes and variants
Pseudo-TORCH syndrome 3 is linked to 1 analyzed protein (STAT2). 1 DNA variants are known to cause it; 5 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 Pseudo-TORCH syndrome 3
STAT2: Signal transducer and activator of transcription 2
It partners with STAT1 and IRF9 to execute type I interferon antiviral transcriptional programs. Biallelic loss-of-function variants can cause severe viral susceptibility, while gain-of-function variants can produce chronic interferon-driven inflammatory disease.
1 disease-causing and 5 uncertain variants in STAT2 are linked to Pseudo-TORCH syndrome 3.
Known disease-causing variants in Pseudo-TORCH syndrome 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STAT2 R148W | 148 | Mediates interaction with USP18 | Disease-causing |
Diseases related to Pseudo-TORCH syndrome 3
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, also linked to STAT2
Frequently asked questions
Which genes are linked to Pseudo-TORCH syndrome 3?
In CATVariant, Pseudo-TORCH syndrome 3 is linked to 1 analyzed protein: STAT2 (Signal transducer and activator of transcription 2).
How many genetic variants are linked to Pseudo-TORCH syndrome 3?
6 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pseudo-TORCH syndrome 3 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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