Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Neuropathy, hereditary sensory, type ID 613708
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
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 1.10
Signed off v.1.2
on 27 Feb 2020
|
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 1.219
|
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 2.25
Signed off v.2.18
on 8 Oct 2020
|
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 1.16
Signed off v.1.12
on 15 Oct 2020
|
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 2.38
Signed off v.2.31
on 8 Oct 2020
|
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
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
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 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spastic paraplegia 3A, autosomal dominant, 182600
- Hereditary spastic paraplegia
- Intellectual disability
Tags
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
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 1.43
|
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
|