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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Research
- Expert list
- Other
Phenotypes
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
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
- NHS GMS
- Expert Review Green
- Literature
- Expert list
Phenotypes
- oculopharyngodistal myopathy
- muscular dystrophy
- congenital myopathy
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Amber
Phenotypes
- Amyotrophic lateral sclerosis, MONDO:0004976
- ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
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Version 3.87
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
- Early-onset oculopharyngeal muscular dystrophy
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