Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
- HSAN with spastic paraplegia
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
- HSAN with spastic paraplegia
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia
- Sensory Neuropathy with Spastic Paraplegia
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Sensory Neuropathy with Spastic Paraplegia
- Neuropathy, hereditary sensory, with spastic paraplegia
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- South West GLH
Phenotypes
- Sensory Neuropathy with Spastic Paraplegia
- Neuropathy, hereditary sensory, with spastic paraplegia
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia
- Sensory Neuropathy with Spastic Paraplegia
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
- Sensory Neuropathy with Spastic Paraplegia
- Sensory Neuropathy with Spastic Paraplegia
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- autosomal recessive mutilating sensory neuropathy with spastic paraplegia
|
Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Red
- UKGTN
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Sensory Neuropathy with Spastic Paraplegia
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
|