Version 19.202
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
- Neuronopathy, distal hereditary motor, type VIIA 158580
- Myasthenic syndrome, congenital, 20, presynaptic, 617143
- Hereditory motor neuropathy
- Congenital myasthenic syndrome
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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)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Myasthenic syndrome, congenital, 20, presynaptic 617143
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
- Congenital myasthenic syndrome 20, MONDO:0014939
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Literature
- UKGTN
Phenotypes
- Neuronopathy, distal hereditary motor, type VIIA 158580
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Congenital Myasthenic Syndrome with Episodic Apnea
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- South West GLH
- NHS GMS
- London North GLH
- Expert Review
Phenotypes
- Neuronopathy, distal hereditary motor, type VIIA
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
- Expert Review Amber
- Literature
Phenotypes
- Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143
Tags
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert Review
- South West GLH
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Neuronopathy, distal hereditary motor, type VIIA
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Version 1.184
|
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
- Neuronopathy, distal hereditary motor, type VIIA, 158580
- Myasthenic syndrome, congenital, 20, presynaptic, 617143
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