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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert list
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Proximal myopathy and ophthalmoplegia, OMIM:605637
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
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Version 1.184
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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
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
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