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
- Myopathy, centronuclear, 160150
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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
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2M, 606482
- Myopathy, centronuclear, 160150
- Myopathy, centronuclear,
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Version 1.3
Signed off v.1.2
on 17 Feb 2020
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Charcot-Marie-Tooth disease, dominant intermediate B, 606482
- Charcot-Marie-Tooth disease, axonal type 2M, 606482
- Centronuclear myopathy 1, 160150
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.46
Signed off v.3.2
on 13 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Lethal congenital contracture syndrome 5 615368
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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
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myopathy, centronuclear, 160150
- Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Tags
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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 Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Centronuclear myopathy 1, 160150
- Centronuclear myopathy
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Other
Phenotypes
- Centronuclear myopathy 1 160150
- Charcot-Marie-Tooth disease, axonal type 2M 606482
- Charcot-Marie-Tooth disease, dominant intermediate B 606482
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Version 2.50
Signed off v.2.3
on 17 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Centronuclear myopathy 1 160150
- Charcot-Marie-Tooth disease, axonal type 2M 606482
- Charcot-Marie-Tooth disease, dominant intermediate B 606482
|
Version 1.21
Signed off v.1.17
on 11 Nov 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Charcot-Marie-Tooth disease, dominant intermediate B, 606482
- Charcot-Marie-Tooth disease, axonal type 2M, 606482
- Centronuclear myopathy 1, 160150
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Charcot Marie Tooth disease, dominant intermediate B, 606482
- Myopathy, centronuclear, 160150
- Myopathy, centronuclear, 160150
- Lethal congenital contracture syndrome 5, 615368
- Charcot Marie Tooth disease, axonal, type 2M, 606482
- Charcot-Marie-Tooth, Intermediate
- Lethal congenital contracture syndrome 5, 615368
- Charcot Marie Tooth disease, axonal, type 2M, 606482
- Charcot-Marie-Tooth, Intermediate
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Charcot Marie Tooth disease, axonal, type 2M, 606482
- Charcot Marie Tooth disease, dominant intermediate B, 606482
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.12
Signed off v.2.4
on 17 Feb 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Centronuclear myopathy 1, 160150
- Charcot-Marie-Tooth disease, axonal type 2M, 606482
- Charcot-Marie-Tooth disease, dominant intermediate B, 606482
|
Version 1.19
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Charcot Marie Tooth disease, dominant intermediate B, 606482
- Lethal congenital contracture syndrome 5, 615368
- Charcot Marie Tooth disease, axonal, type 2M, 606482
- Myopathy, centronuclear, 160150
- Charcot-Marie-Tooth, Intermediate
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Version 1.42
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Lethal congenital contracture syndrome 5, 615368
- Charcot-Marie-Tooth disease, dominant intermediate B, 606482
- Charcot-Marie-Tooth disease, axonal type 2M, 606482
- Centronuclear myopathy 1, 160150
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