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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- microcephaly
- seizures
- agenesis of the corpus callosum
- intellectual disability
- hand and foot anomalies
- 612337
- non-specific craniofacial anomalies
- hypoplasia
- psychomotor retardation
- hypogenesis of the corpus callosum
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- microcephaly
- seizures
- agenesis of the corpus callosum
- intellectual disability
- hand and foot anomalies
- 612337
- non-specific craniofacial anomalies
- hypoplasia
- psychomotor retardation
- hypogenesis of the corpus callosum
|