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
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
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
- NHS GMS
- Expert Review Green
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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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
- Leukoencephalopathy with ataxia, OMIM:615651
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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
- Literature
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
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 ataxia, OMIM:615651
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Literature
- Literature
Phenotypes
- {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628
- {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628
- {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Leukoencephalopathy with ataxia, OMIM:615651
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
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
- Leukoencephalopathy with ataxia, 615651
- Hyperaldosteronism, familial, type II, 605635
- {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
- {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
- {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
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