VCP

valosin containing protein
OMIM: 601023, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green VCP in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Signed off v.1.21 on 11 Nov 2020

Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.48

    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

    Green VCP in Neuromuscular disorders


    Version 5.92
    Signed off v.5.43 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
    • Charcot-Marie-Tooth disease, type 2Y 616687
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1

    Red VCP in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.52
    Signed off v.3.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.20
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • 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
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
    • Charcot-Marie-Tooth disease, type 2Y 616687
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
    Tags
    • adult-onset

    Green VCP in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.15
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
    • familial amyotrophic lateral sclerosis (ALS14)
    • Amyotrophic Lateral Sclerosis, Dominant

    Green VCP in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    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)

    Amber VCP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    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

    Amber VCP in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

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

    Green VCP in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
    • Charcot-Marie-Tooth disease, type 2Y, 616687