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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
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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
- TMEM106B related hypomyelinating leukodystrophy
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
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
- Expert Review Amber
- Literature
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
|