Version 19.201
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
- Ullrich congenital muscular dystrophy, 254090
- Bethlem myopathy 1
- Bethlem myopathy, 158810
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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
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- COL6A1 associated myopathy
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
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Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Bethlem myopathy 1, 158810
- Ullrich congenital muscular dystrophy 1, 254090
|