Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Myopathy, congenital, with fiber-type disproportion 255310
- CAP myopathy 1 609284
- Nemaline myopathy 1, autosomal dominant or recessive 609284
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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)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert
- Expert list
Phenotypes
- nemaline myopathy
- Nemaline Myopathy
- Nemaline myopathy 1, autosomal dominant or recessive, 609284
- Myopathy, congenital, with fiber-type disproportion 255310
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- CAP myopathy 1, OMIM:609284
- Myopathy, congenital, with fiber-type disproportion, OMIM:255310
- Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- CAP myopathy 1, 609284
- Nemaline myopathy 1, autosomal dominant or recessive, 609284
- Nemaline myopathy
- congenital myopathy
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Congenital fiber-type disproportion myopathy 255310
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
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
- Nemaline myopathy 1, autosomal dominant or recessive, 609284
- CAP myopathy 1, 609284
- Myopathy, congenital, with fiber-type disproportion, 255310
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Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
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