Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Neuropathy, hereditary sensory, type ID 613708
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literaure
- Review
Phenotypes
- Neuropathy, hereditary sensory, type ID, 613708
- HSN1D
- Hereditary spastic paraplegia, 182600
- Hereditary sensory neuropathy
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia 3A, autosomal dominant, 182600
- Neuropathy, hereditary sensory, type ID, 613708
- HSN1D
- Hereditary sensory neuropathy
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 3A, autosomal dominant,
- Spastic Paraplegia, Dominant
- Spastic paraplegia 3A, autosomal dominant
|
Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Spastic paraplegia 3A, autosomal dominant,182600
- Spastic Paraplegia, Dominant
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 3A, 182600 autosomal dominant
- Spastic Paraplegia, Dominant
- Neuropathy, hereditary sensory, type ID, 613708
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 3A, autosomal dominant,
- Spastic Paraplegia, Dominant
- Spastic paraplegia 3A, autosomal dominant
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ATL1-associated hereditary spastic paraplegia
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Neuropathy, hereditary sensory, type ID, 613708
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spastic paraplegia 3A, autosomal dominant, 182600
- Hereditary spastic paraplegia
- Intellectual disability
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Neuropathy, hereditary sensory, type ID, 613708
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neuropathy, hereditary sensory, type ID, 613708
- Spastic paraplegia 3A, autosomal dominant, 182600
|