Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
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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)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
- Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.36
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London South GLH
- Expert Review
Phenotypes
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
- Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
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Version 3.79
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
- Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
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