Neurodevelopmental disorder with or without autism or seizures: genes and variants
Neurodevelopmental disorder with or without autism or seizures is linked to 1 analyzed protein (CUL3). 3 DNA variants are known to cause it; 30 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 Neurodevelopmental disorder with or without autism or seizures
CUL3: Cullin-3
It serves as a scaffold for multiple ubiquitin-ligase complexes that control degradation of signaling and regulatory proteins, including components of the KEAP1-NRF2 pathway. Pathogenic variants can cause pseudohypoaldosteronism type II and neurodevelopmental disorders, while somatic alterations affect cancer signaling.
3 disease-causing and 29 uncertain variants in CUL3 are linked to Neurodevelopmental disorder with or without autism or seizures.
Weakly linked (only a few uncertain records): COL5A1.
Known disease-causing variants in Neurodevelopmental disorder with or without autism or seizures
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CUL3 R128C | 128 | Disease-causing (★★) | |
| CUL3 I749T | 749 | Cullin neddylation | Disease-causing (★) |
| CUL3 L321F | 321 | Disease-causing (★) |
Same protein, different disease
- Pseudohypoaldosteronism type 2E is also caused by CUL3 variants; they fall mostly in different places as the Neurodevelopmental disorder with or without autism or seizures variants (7 disease-causing).
Diseases related to Neurodevelopmental disorder with or without autism or seizures
- Pseudohypoaldosteronism type 2E, also linked to CUL3
- NK-cell enteropathy, also linked to CUL3
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with or without autism or seizures?
In CATVariant, Neurodevelopmental disorder with or without autism or seizures is linked to 1 analyzed protein: CUL3 (Cullin-3).
How many genetic variants are linked to Neurodevelopmental disorder with or without autism or seizures?
48 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 30 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with or without autism or seizures 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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