Childhood Onset VCP-related Neurodevelopmental Disorder: genes and variants
Childhood Onset VCP-related Neurodevelopmental Disorder is linked to 1 analyzed protein (VCP). 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 Childhood Onset VCP-related Neurodevelopmental Disorder
VCP: Transitional endoplasmic reticulum ATPase
It uses ATP to extract ubiquitinated proteins from complexes or membranes for recycling or degradation and is central to proteostasis, ER-associated degradation, and autophagy. Dominant pathogenic variants cause multisystem proteinopathy with inclusion-body myopathy, Paget disease, frontotemporal dementia, or ALS.
4 disease-causing and 1 uncertain variants in VCP are linked to Childhood Onset VCP-related Neurodevelopmental Disorder.
Known disease-causing variants in Childhood Onset VCP-related Neurodevelopmental Disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| VCP R256G | 256 | Disease-causing (★★) | |
| VCP K251N | 251 | Disease-causing (★) | |
| VCP R362C | 362 | Disease-causing (★) | |
| VCP S541Y | 541 | Disease-causing (★) |
Same protein, different disease
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia is also caused by VCP variants; they fall mostly in different places as the Childhood Onset VCP-related Neurodevelopmental Disorder variants (31 disease-causing).
- Frontotemporal dementia and/or amyotrophic lateral sclerosis is also caused by VCP variants; they fall mostly in different places as the Childhood Onset VCP-related Neurodevelopmental Disorder variants (30 disease-causing).
Diseases related to Childhood Onset VCP-related Neurodevelopmental Disorder
- Charcot-Marie-Tooth disease, also linked to VCP
- Amyotrophic lateral sclerosis, also linked to VCP
- Alzheimer disease, also linked to VCP
- Frontotemporal dementia and/or amyotrophic lateral sclerosis, also linked to VCP
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also linked to VCP
Frequently asked questions
Which genes are linked to Childhood Onset VCP-related Neurodevelopmental Disorder?
In CATVariant, Childhood Onset VCP-related Neurodevelopmental Disorder is linked to 1 analyzed protein: VCP (Transitional endoplasmic reticulum ATPase).
How many genetic variants are linked to Childhood Onset VCP-related Neurodevelopmental Disorder?
5 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 Childhood Onset VCP-related Neurodevelopmental Disorder 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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