Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0
(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
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Tibial muscular dystrophy, tardive, 600334
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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
- Myopathy, early-onset, with fatal cardiomyopathy 611705
- Muscular dystrophy, limb-girdle, type 2J
- Tibial muscular dystrophy, tardive, 600334
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- Expert Review Red
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Cardiomyopathy, familial hypertrophic, 9,
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 3.9
Latest signed off version: v3.5
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
Phenotypes
- Cardiomyopathy, dilated, 1G, 604145
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Tibial muscular dystrophy, tardive (600334)
- Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
- Cardiomyopathy, dilated, 1G
- Cardiomyopathy, familial hypertrophic, 9 (613765)
- Salih myopathy (611705)
- Myopathy, proximal, with early respiratory muscle involvement (603689)
- Cardiomyopathy, dilated, 1G (604145)
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Version 0.36
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review
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Not set
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Sources
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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)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Congenital titinopathy with arthrogryposis
- Hereditary Myopathy with Early Respiratory Failure
- Cardiomyopathy, familial hypertrophic, 9, 613765
- Hereditary Myopathy with Early Respiratory Failure (dominant)
- Udd Distal Myopathy (Dominant)
- Salih Myopathy (recessive)
- core myopathy with heart disease
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Salih myopathy, OMIM:611705
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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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Muscular dystrophy, limb-girdle, type 2J, 608807
- Limb girdle muscular dystrophy
- Distal myopathy
- Myofibrillar myopathy
- Congenital myopathy
- dilated cardiomyopathy
- HMERF
- arthrogryposis
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Latest signed off version: v2.8
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- UKGTN
- South West GLH
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- North West GLH
Phenotypes
- Myopathy, proximal, with early respiratory muscle involvement (603689)
- Cardiomyopathy, familial hypertrophic, 9 (613765)
- Tibial muscular dystrophy, tardive (600334)
- Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
- Cardiomyopathy, dilated, 1G (604145)
- Salih myopathy (611705)
- Cardiomyopathy, dilated, 1G
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- congenital titinopathy with arthrogryposis
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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 Green
- DD-Gene2Phenotype
Phenotypes
- CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
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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
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review
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Not set
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Sources
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Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Cardiomyopathy, familial hypertrophic, 9,
- Cardiomyopathy, dilated, 1G
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
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Version 1.182
|
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
- Tibial muscular dystrophy, tardive, 600334
- Salih myopathy, 611705
- Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807
- Myopathy, myofibrillar, 9, with early respiratory failure, 603689
- Cardiomyopathy, familial hypertrophic, 9, 613765
- Cardiomyopathy, dilated, 1G, 604145
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