Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Dystonia
- fatty acid hydroxylase-associated neurodegeneration
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Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Spastic paraplegia 35, autosomal recessive OMIM:612319
- hereditary spastic paraplegia 35 MONDO:0012866
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Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spastic paraplegia 35, autosomal recessive OMIM:612319
- hereditary spastic paraplegia 35 MONDO:0012866
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Spastic paraplegia 35, autosomal recessive 612319
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert Review
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Spastic paraplegia 35, autosomal recessive
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Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 35, autosomal recessive, 612319
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 35, autosomal recessive, 611026
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Dystonia
- fatty acid hydroxylase-associated neurodegeneration
- Spastic paraplegia 35, autosomal recessive
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
- Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
- Early onset dystonia
- Hereditary spastic paraplegia
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert list
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
- Early onset dystonia
- Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
- Hereditary spastic paraplegia
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spastic paraplegia 35, autosomal recessive, 612319
- SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spastic paraplegia 35, autosomal recessive, 612319
- spastic paraplegia with ID
- cognitive defects
- Seizures
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
Not set
|
Sources
Phenotypes
- Spastic paraplegia 35, autosomal recessive 612319
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- fatty acid hydroxylase-associated neurodegeneration
- Spastic paraplegia 35, autosomal recessive 612319
- Dystonia
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
- Spastic paraplegia 35, autosomal recessive, 612319
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Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- fatty acid hydroxylase-associated neurodegeneration
- Dystonia
- Spastic paraplegia 35, autosomal recessive 612319
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spastic paraplegia 35, autosomal recessive, 612319
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