Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- Expert Review
Phenotypes
- Miyoshi muscular dystrophy 3, 613319
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0
(1 May 2024)
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
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Miyoshi muscular dystrophy 3 613319
- Muscular dystrophy, limb-girdle, type 2L 611307
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Miyoshi muscular dystrophy 3, OMIM:613319
- Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Gnathodiaphyseal dysplasia, 166260
- Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
- Limb-Girdle Muscular Dystrophy, Recessive
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Gnathodiaphyseal dysplasia, 166260
- Muscular dystrophy, limb-girdle, type 2L, 611307
- Miyoshi muscular dystrophy 3, 613319
- Limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy, Recessive
- Limb-girdle muscular dystrophy
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Gnathodiaphyseal dysplasia OMIM:166260
- gnathodiaphyseal dysplasia MONDO:0008151
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- skeletal dysplasias
- Disproportionate Short Stature
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MIYOSHI MUSCULAR DYSTROPHY TYPE 3
- GNATHODIAPHYSEAL DYSPLASIA
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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
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Disproportionate Short Stature
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307
- GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gnathodiaphyseal dysplasia, 166260
- Muscular dystrophy, limb-girdle, type 2L, 611307
- Miyoshi muscular dystrophy 3, 613319
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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
- Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307
- Miyoshi muscular dystrophy 3, 613319
- Gnathodiaphyseal dysplasia, 166260
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
- Miyoshi muscular dystrophy 3, OMIM:613319
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