Spongiform encephalopathy with neuropsychiatric features: genes and variants
Spongiform encephalopathy with neuropsychiatric features is linked to 1 analyzed protein (PRNP). 4 DNA variants are known to cause it; 1 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 Spongiform encephalopathy with neuropsychiatric features
PRNP: Major prion protein
Its normal cellular form is enriched in the nervous system, but misfolding into self-propagating conformations can template further protein conversion. This process causes prion diseases, while germline pathogenic variants underlie inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia.
4 disease-causing and 1 uncertain variants in PRNP are linked to Spongiform encephalopathy with neuropsychiatric features.
Known disease-causing variants in Spongiform encephalopathy with neuropsychiatric features
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRNP D178N | 178 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing (★★) |
| PRNP E200K | 200 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing (★★) |
| PRNP H187R | 187 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing |
| PRNP P105T | 105 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing |
Same protein, different disease
- Huntington disease-like 1 is also caused by PRNP variants; they fall partly in the same places as the Spongiform encephalopathy with neuropsychiatric features variants (13 disease-causing).
- Gerstmann-Straussler-Scheinker syndrome is also caused by PRNP variants; they fall partly in the same places as the Spongiform encephalopathy with neuropsychiatric features variants (8 disease-causing).
- Inherited Creutzfeldt-Jakob disease is also caused by PRNP variants; they fall mostly in different places as the Spongiform encephalopathy with neuropsychiatric features variants (4 disease-causing).
Diseases related to Spongiform encephalopathy with neuropsychiatric features
- Huntington disease-like 1, also linked to PRNP
- Gerstmann-Straussler-Scheinker syndrome, also linked to PRNP
- Inherited Creutzfeldt-Jakob disease, also linked to PRNP
- Fatal familial insomnia, also linked to PRNP
- Dementia, also linked to PRNP
- Kuru, susceptibility to, also linked to PRNP
Frequently asked questions
Which genes are linked to Spongiform encephalopathy with neuropsychiatric features?
In CATVariant, Spongiform encephalopathy with neuropsychiatric features is linked to 1 analyzed protein: PRNP (Major prion protein).
How many genetic variants are linked to Spongiform encephalopathy with neuropsychiatric features?
6 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spongiform encephalopathy with neuropsychiatric features 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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