VCP

valosin containing protein
OMIM: 601023, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green VCP in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320)
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)

    Green VCP in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954)

    Green VCP in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507

    Green VCP in Incidentalome


    Version 0.301

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green VCP in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO: 0700092)

    Green VCP in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507
    • Disorders of mitochondrial protein quality control

    Green VCP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO: 0700092)

    Green VCP in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2Y, MIM# 616687

    Green VCP in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

    Green VCP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

    Green VCP in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Green
    • NSW Health Pathology

    Red VCP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320
    • Charcot-Marie-Tooth disease, type 2Y, MIM# 616687