VCP

valosin containing protein
OMIM: 601023, Gene2Phenotype

15 panels

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


Level 2: Neurology
Version 7.5
Latest signed off version: v7.0 (6 May 2026)

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, OMIM: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 1.85

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
    Amber VCP in Limb disorders


    Level 2: Musculoskeletal
    Version 8.16
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Adams-Oliver syndrome, MONDO:0007034
    Tags
    • Q2_26_promote_green
    Red VCP in Arthrogryposis


    Level 2: Neurology
    Version 10.13
    Latest signed off version: v10.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • nclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
    Red VCP in Congenital myopathy


    Level 2: Neurology
    Version 7.77
    Latest signed off version: v7.0 (6 May 2026)

    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 6.15
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

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


    Level 2: Respiratory
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Adams-Oliver syndrome, MONDO:0007034
    Tags
    • Q2_26_promote_green
    Amber VCP in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.22
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Adams-Oliver syndrome, MONDO:0007034
    Tags
    • Q2_26_promote_green
    Green VCP in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.2
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • 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
    Amber VCP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.26
    Latest signed off version: v7.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Adams-Oliver syndrome, MONDO:0007034
    Tags
    • Q2_26_promote_green
    Green VCP in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.75

    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
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
    Red VCP in DDG2P


    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    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 1.510

    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, OMIM:616687
    Green VCP in Intellectual disability


    Level 2: Developmental disorders
    Version 10.46
    Latest signed off version: v10.0 (6 May 2026)

    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 8.9
    Latest signed off version: v8.0 (6 May 2026)

    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