|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Proximal myopathy and ophthalmoplegia 605637
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- UKGTN
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- 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 4.37
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 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
|
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
|
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
|