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Version 3.90
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MAST1-related developmental disorder (monoallelic)
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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 Amber
- Literature
Phenotypes
- Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures
- Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
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
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Sources
- Expert Review Green
- Literature
Phenotypes
- Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures
- Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
- Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273
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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
- Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273
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