Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Spastic paraplegia 18, autosomal recessive, 611225
- Spastic paraplegia, autosomal dominant
- hereditary spastic paraplegia
- neurodegeneration
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Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia, autosomal dominant
- Spastic paraplegia 18, autosomal recessive, 611225
- hereditary spastic paraplegia
- neurodegeneration
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia, autosomal dominant
- neurodegeneration.
- Spastic paraplegia 18, autosomal recessive, 611225
- hereditary spastic paraplegia
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- neurodegeneration
- hereditary spastic paraplegia
- Spastic paraplegia 18, autosomal recessive, 611225
- Spastic paraplegia, autosomal dominant
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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
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- AUTOSOMAL RECESSIVE MENTAL RETARDATION
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 18, autosomal recessive, 611225
- intellectual disability
- AUTOSOMAL RECESSIVE MENTAL RETARDATION
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spastic paraplegia 18, autosomal recessive, 611225
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