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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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 Review
Phenotypes
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
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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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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
Phenotypes
- CMD with rigid spine
- Nemaline myopathy 3, autosomal dominant or recessive 161800
- Myopathy, congenital, with fiber-type disproportion 1 255310
- Nemaline myopathy 3, 161800
- Myopathy, congenital, with fiber-type disproportion 1
- Myopathy, actin, congenital, with cores
- Myopathy, actin, congenital, with excess of thin myofilaments
- Nemaline myopathy 3
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- South West GLH
- Literature
Phenotypes
- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- Literature
Phenotypes
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert Review
Phenotypes
- CMD with rigid spine
- Nemaline myopathy 3, autosomal dominant or recessive 161800
- Myopathy, congenital, with fiber-type disproportion 1 255310
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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, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review
- Expert
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Myopathy, actin, congenital, with cores, OMIM:161800
- Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
- Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
- CMD with rigid spine
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Myopathy, actin, congenital, with cores, OMIM:161800
- Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
- Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Myopathy, scapulohumeroperoneal, 616852
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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
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- NEMALINE MYOPATHY 3, 161800
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Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Green
Phenotypes
- Dilated cardiomyopathy, MONDO:0005021
- Hypertrophic cardiomyopathy, MONDO:0005045
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
- CMD with rigid spine
- Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
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Version 1.182
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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
- Myopathy, actin, congenital, with excess of thin myofilaments, 161800
- Nemaline myopathy 3, autosomal dominant or recessive, 161800
- Myopathy, congenital, with fiber-type disproportion 1, 255310
- Myopathy, actin, congenital, with cores, 161800
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