Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
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Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
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Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
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
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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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
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
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
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare 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
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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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
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Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69
|
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)
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- VCP-related developmental disorder (monoallelic)
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- neurodevelopmental disorder, MONDO:0700092
- intellectual disability, MONDO:0001071
Tags
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
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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
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
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