Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Myotonia congenita, recessive, 255700
- Myotonia congenita, dominant, 160800
- Myotonia levior, recessive
- Myotonia Congenita
- Hyperkalemic Periodic Paralysis
- Myotonia
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Myotonia levior, recessive
- Myotonia congenita, recessive, 255700
- Hyperkalemic Periodic Paralysis
- Myotonia Congenita
- Myotonia
- Myotonia congenita, dominant, 160800
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Myotonia congenita, dominant OMIM:160800
- Myotonia congenita, recessive OMIM:255700
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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
- Myotonia congenita, dominant, 160800
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