Genomics England
GMS Panels
Panels
Genes and Entities

VCP

valosin containing protein
OMIM: 601023
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, type 2Y, OMIM:616687
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.37
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320