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
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review
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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
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Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48
|
review
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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
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Version 5.92
Signed off v.5.43
on 4 Mar 2020
|
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 3.52
Signed off v.3.2
on 13 Feb 2020
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review
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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
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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
|
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
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Version 2.38
Signed off v.2.31
on 8 Oct 2020
|
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
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
- familial amyotrophic lateral sclerosis (ALS14)
- Amyotrophic Lateral Sclerosis, Dominant
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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)
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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
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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
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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
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