Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 64, OMIM:618004
- developmental and epileptic encephalopathy, 64, MONDO:0033373
Tags
- Q3_23_promote_green
- Q3_23_MOI
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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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Developmental and Epileptic Encephalopathy
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Epileptic encephalopathy, early infantile, 64 618004
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Epileptic encephalopathy, early infantile, 64, 618004
- Global developmental delay
- Intellectual disability
- Seizures
- Postnatal microcephaly
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, early infantile, 64, 618004
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