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
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
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Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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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 Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
Tags
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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 Amber
- Literature
Phenotypes
- Brain stem and spinal cord Hypomyelination
- leg spasticity
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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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
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
Phenotypes
- leg spasticity
- Brain stem and spinal cord Hypomyelination
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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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
- Yorkshire and North East GLH
- South West GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- leg spasticity
- Brain stem and spinal cord Hypomyelination
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- London North GLH
- NHS GMS
- South West GLH
- Expert list
Phenotypes
- Brain stem and spinal cord Hypomyelination
- leg spasticity
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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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
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
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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
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Tags
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Version 3.87
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
- HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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
Phenotypes
- HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Tags
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
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