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
- Literature
Phenotypes
- Complex hereditary spastic paraplegia
- Spastic paraplegia 82, autosomal recessive, 618770
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Version 4.43
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
- Expert Review Green
- Literature
Phenotypes
- Spastic paraplegia 82, autosomal recessive, 618770
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
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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 82, autosomal recessive, 618770
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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
Phenotypes
- Global developmental delay
- Developmental regression
- Intellectual disability
- Spastic paraparesis
- Seizures
- Spastic tetraparesis
- Cerebral atrophy
- Cerebellar atrophy
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
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 Review Green
- Literature
Phenotypes
- Global developmental delay
- Developmental regression
- Intellectual disability
- Spastic paraparesis
- Seizures
- Cerebral atrophy
- Cerebellar atrophy
- Spastic paraplegia 82, autosomal recessive, 618770
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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 Green
- Literature
Phenotypes
- Spastic paraplegia 82, autosomal recessive, 618770
- Global developmental delay
- Developmental regression
- Intellectual disability
- Spastic paraparesis
- Seizures
- Spastic tetraparesis
- Cerebral atrophy
- Cerebellar atrophy
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Literature
Phenotypes
- Spastic paraplegia 82, autosomal recessive, OMIM:618770
- axonal neuropathy, MONDO:0004183
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