Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
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review
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Unknown
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Sources
- Expert Review Red
- Literature
Phenotypes
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 Red
Phenotypes
- EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369
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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, NOT imprinted
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Expert
Phenotypes
- Epileptic Encephalopathy
- EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert Review Amber
Phenotypes
- Lennox-Gastaut syndrome
- LGS
- Epileptic Encephalopathy
- Epileptic Encephalopathy Lennox-Gastaut type
Tags
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