Version 4.64
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
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Version 0.36
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review
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Not set
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Sources
- Expert Review Amber
- SFARI
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Version 3.88
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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, imprinted status unknown
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
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Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088
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