CDC42BPB

CDC42 binding protein kinase beta
OMIM: 614062, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CDC42BPB in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red CDC42BPB in DDG2P


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
    Amber CDC42BPB in Early onset or syndromic epilepsy

    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
    Amber CDC42BPB in Intellectual disability - microarray and sequencing

    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