VCP

valosin containing protein
OMIM: 601023
PanelMode of inheritanceDetails
3 panels
R-numbers: R58
Signed-off version 4.34
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320