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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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.9
Latest signed off version: v4.8
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- UKGTN
Phenotypes
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
- Myopathy, X-linked, with postural muscle atrophy (300696)
- ?Uruguay faciocardiomusculoskeletal syndrome (300280)
- Scapuloperoneal myopathy, X-linked dominant (300695)
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
- Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- South West GLH
- Oxford Medical Genetics Laboratory
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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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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
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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)
|
review
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Not set
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Sources
- Expert Review Red
- Expert list
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Red
- Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
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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
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Emery-Dreifuss muscular dystrophy
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Scapuloperoneal myopathy, X-linked dominant, 300695
- Myopathy, X-linked, with postural muscle atrophy, 300696
- Myopathy, reducing body, X-linked, severe early-onset, 300717
- Myopathy, reducing body, X-linked, childhood-onset, 300718
- Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- South West GLH
- Expert Review Green
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Version 1.184
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Uruguay faciocardiomusculoskeletal syndrome, 300280
- Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
- Myopathy, X-linked, with postural muscle atrophy, 300696
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
- Scapuloperoneal myopathy, X-linked dominant, 300695
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