Version 3.31
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 Amber
- Literature
Phenotypes
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Tags
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.66
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
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Tags
|
Version 4.39
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
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
- Spastic paraplegia 83, autosomal recessive, OMIM:619027
- Spastic paraplegia 83, autosomal recessive, MONDO:0033614
Tags
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Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026
- Spastic paraplegia 83, autosomal recessive OMIM:619027
Tags
- for-review
- gene-checked
- to_be_confirmed_NHSE
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Version 3.79
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
- HPDL Neurodegenerative Disease
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Tags
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Tags
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026
- Spastic paraplegia 83, autosomal recessive OMIM:619027
Tags
- gene-checked
- for-review
- to_be_confirmed_NHSE
|