VCP

valosin containing protein
OMIM: 601023, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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