VCP

valosin containing protein
OMIM: 601023, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green VCP in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 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 2.0

1 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 3.0

1 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 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501
  • MIM 613954)
  • Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320)

Green VCP in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 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 2.0

2 reviews 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 2.0

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

Green VCP in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
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 2.0

1 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 1.0

0 reviews 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 1.0

1 review Unknown
Sources
  • Expert Review Green
  • NSW Health Pathology

Red VCP in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews 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