Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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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
- Expert list
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
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Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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