Version 0.36
|
review
|
Not set
|
Sources
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- CDC42BPB-related Neurodevelopmental Disorder
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
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
|
review
|
Unknown
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- CDC42BPB-related Neurodevelopmental Disorder
- Central hypotonia
- Global developmental delay
- Intellectual disability
- Seizures
- Autistic behavior
- Behavioral abnormality
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- CDC42BPB-related Neurodevelopmental Disorder
- Central hypotonia
- Global developmental delay
- Intellectual disability
- Seizures
- Autistic behavior
- Behavioral abnormality
|