Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert list
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Expert list
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
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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
- Hereditary motor and sensory neuropathy, Okinawa type, 604484
- ?Spastic paraplegia 57, autosomal recessive, 615658
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