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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
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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
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
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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
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Literature
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
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Version 1.182
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
- Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
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