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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Literature
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect 17, 618010
- epilepsy
- febrile seizures
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010
- Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Tags
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect 17, 618010
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