Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Bethlem myopathy 2
- EDS/myopathy overlap syndrome
- Ullrich congenital muscular dystrophy 2
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert Review
Phenotypes
- Ullrich congenital muscular dystrophy 2
- Bethlem myopathy 2
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Ullrich congenital muscular dystrophy 2, bethlem myopathy 2
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- UCL
Phenotypes
- EDS/myopathy overlap syndrome
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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
- Ullrich congenital muscular dystrophy 2, 616470
- Bethlem myopathy
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
- Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353)
- Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Bethlem myopathy 2, OMIM:616471
- Bethlem myopathy 2, MONDO:0034022
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Version 3.155
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
- Expert list
Phenotypes
- Bethlem myopathy 2, 616471
- ?Ullrich congenital muscular dystrophy 2, 616470
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
- Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353)
- Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
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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
- ?Ullrich congenital muscular dystrophy 2, 616470
- Bethlem myopathy 2, 616471
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