Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
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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
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Central core disease, MIM# 117000
- Multiple pterygium syndrome
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Malignant hyperthermia susceptibility 1}, 145600
- Central core disease, 117000
- Minicore myopathy with external ophthalmoplegia, 255320
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
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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
|
Sources
Phenotypes
- Central core disease, 117000
- Neuromuscular disease, congenital, with uniform type 1 fiber
- Malignant hyperthermia susceptibility 1 145600
- Minicore myopathy with external ophthalmoplegia, 255320
- Neuromuscular disease, congenital, with uniform type 1 fiber 117000
- Central core disease 117000
- Minicore myopathy with external ophthalmoplegia 255320
- Minicore myopathy with external ophthalmoplegia
- {Malignant hyperthermia susceptibility 1}, 145600
- congenital muscular dystrophies
- Central core disease
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Central core disease of muscle, 117000
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- Central core disease
- Minicore myopathy with external ophthalmoplegia
- Neuromuscular disease, congenital, with uniform type 1 fiber
|
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
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Expert list
Phenotypes
- {Malignant hyperthermia susceptibility 1}, 145600
- congenital muscular dystrophies
- Minicore myopathy with external ophthalmoplegia 255320
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Central core disease, OMIM:117000
- Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000
- Minicore myopathy with external ophthalmoplegia, OMIM:255320
- King-Denborough syndrome, OMIM:619542
Tags
- pharmacogenetics
- treatable
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- London North GLH
Phenotypes
- Central core disease, OMIM:117000 (Dominant & recessive)
- Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive)
- Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
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
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- RYR1-related congenital myopathy
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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
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
- Central core disease, 117000
- congenital myopathy
- malignant hyperthermia
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Rhabdomyolysis and metabolic muscle disorders
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Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Rhabdomyolysis and metabolic muscle disorders
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- CENTRAL CORE DISEASE OF MUSCLE
- CCD
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Central core disease, 117000
- King-Denborough syndrome, 145600
- Minicore myopathy with external ophthalmoplegia, 255320
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
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Version 1.3
Latest signed off version: v1.0
(30 Nov 2022)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- {Malignant hyperthermia susceptibility 1}, OMIM:145600
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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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- {Malignant hyperthermia susceptibility 1}, 145600
- Central core disease, OMIM:117000
|