Incidentalome

Gene: VCP

Green List (high evidence)

Well established gene with variants identified in multiple unrelated individuals.

PMID: 21145000:
4 individuals found with p.R191Q mutation in the VCP gene identified to segregate in an Italian family across 4 generations which known to be causative of IBMPFD as well.

PMID: 33004675:
4 individuals from two unrelated families identified with mutations in VCP causative of AD FTD.

p.Asp395Gly knock-in mutant mouse line (DG) using CRISPR-Cas9 were stimulated with the pathologic tau derived from Alzheimer patients. The results showed that when stimulated, the mice developed pathologic tau aggregation showing that the neurons present with the R395G mutation had increased susceptibility to the aggregates, resulting in downstream neurodegeneration.

Created: 19 Apr 2023, 2:38 a.m. | Last Modified: 19 Apr 2023, 2:38 a.m.

Panel Version: 0.230

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501; MIM 613954); Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320)

Publications

• 21145000
• 33004675