CDC42BPB

CDC42 binding protein kinase beta
OMIM: 614062, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CDC42BPB in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841
Red CDC42BPB in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.176
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841
    • Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239
    Amber CDC42BPB in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841
    • Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239
    Tags
    • Q1_26_promote_green