Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Developmental and epileptic encephalopathy 32 OMIM:616366
- developmental and epileptic encephalopathy, 32 MONDO:0014607
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- hereditary spastic paraplegia and ataxia
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Hereditary spastic paraplegia and ataxia
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- EPILEPTIC ENCEPHALOPATHY.
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- EPILEPTIC ENCEPHALOPATHY Loss-of-function
- EPILEPTIC ENCEPHALOPATHY Gain-of-function
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Epileptic encephalopathy, early infantile, 32, 616366
- Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review
Phenotypes
- Developmental and epileptic encephalopathy 32 OMIM:616366
- developmental and epileptic encephalopathy, 32 MONDO:0014607
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- EPILEPTIC ENCEPHALOPATHY.
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Early infantile encephalopathy 32, 616366
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Version 4.11
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Epileptic encephalopathy, early infantile, 32, 616366
- Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, early infantile, 32, 616366
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