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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 Green
Phenotypes
- KAT5-related Neurodevelopmental Syndrome
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(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 Amber
- Literature
Phenotypes
- Severe global developmental delay
- Intellectual disability
- Seizures
- Microcephaly
- Behavioral abnormality
- Sleep disturbance
- Morphological abnormality of the central nervous system
- Short stature
- Oral cleft
- Abnormality of the face
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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
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Severe global developmental delay
- Intellectual disability
- Seizures
- Microcephaly
- Behavioral abnormality
- Sleep disturbance
- Morphological abnormality of the central nervous system
- Short stature
- Oral cleft
- Abnormality of the face
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Severe global developmental delay
- Intellectual disability
- Seizures
- Microcephaly
- Behavioral abnormality
- Sleep disturbance
- Morphological abnormality of the central nervous system
- Short stature
- Oral cleft
- Abnormality of the face
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