VCP

valosin containing protein
OMIM: 601023, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green VCP in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
    Green VCP in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
    Red VCP in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 Inclusion body myopathy,Paget disease and frontotemporal dementia 1, 167320
    • Inclusion Body Myopathy, Dominant
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
    Red VCP in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
    Tags
    • adult-onset
    Green VCP in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
    Green VCP in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
    Green VCP in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
    • Amyotrophic Lateral Sclerosis, Dominant
    • familial amyotrophic lateral sclerosis (ALS14)
    Red VCP in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • VCP-related developmental disorder (monoallelic)
    Amber VCP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Expert Review
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2Y
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
    Green VCP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Green VCP in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2Y, OMIM:616687