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
- Centronuclear myopathy 1, OMIM:160150
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Version 19.201
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
- Charcot-Marie-Tooth disease, axonal, type 2M, 606482
- Myopathy, centronuclear, 160150
- Myopathy, centronuclear,
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Version 3.6
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 4.36
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
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Centronuclear myopathy 1, OMIM:160150
- Lethal congenital contracture syndrome 5, OMIM:615368
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 Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Centronuclear myopathy 1, 160150
- Centronuclear myopathy
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
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 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Lethal congenital contracture syndrome 5, 615368
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- 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 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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 3.83
Latest signed off version: v3.24
(15 May 2023)
|
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 1.182
|
review
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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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