Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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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 or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
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Version 0.36
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review
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Not set
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Sources
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- NHS GMS
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
- neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
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Version 3.87
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Expert Review
- Expert Review Green
Phenotypes
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
- neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
- neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
- intellectual disability, autosomal dominant 8 MONDO:0013655
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
- neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
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Version 1.184
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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
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
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