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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
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, imprinted status unknown
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Sources
- NHS GMS
- London South GLH
- Expert Review Amber
- Expert Review
Phenotypes
- {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Tags
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- Expert Review Removed
- DD-Gene2Phenotype
Phenotypes
- CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150
Tags
- polygenic
- curated_removed
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- {Centronuclear myopathy, autosomal, modifier of}, 160150
- Autosomal dominant centronuclear myopathy
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