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, imprinted status unknown
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Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- axial hypotonia
- intellectual disability
- autistic features
- central visual impairment
- hyperkinetic movement disorder
- epilepsy or electroencephalography abnormalities
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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
- INTELLECTUAL DISABILITY 616579
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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
- Expert Review Green
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Cortical visual impairment
- Seizures
- Stereotypic behavior
- Generalized hypotonia
- Intellectual disability
- Abnormality of movement
- Global developmental delay
- Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
- Autistic behavior
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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
|
Sources
- Expert Review
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Cortical visual impairment
- Seizures
- Stereotypic behavior
- Generalized hypotonia
- Intellectual disability
- Abnormality of movement
- Global developmental delay
- Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
- Autistic behavior
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- NHS GMS
- London North GLH
Phenotypes
- Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
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Version 1.184
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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
- Stereotypic behavior
- Global developmental delay
- Generalized hypotonia
- Autistic behavior
- Abnormality of movement
- Seizures
- Cortical visual impairment
- Intellectual disability
- Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
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