CDC42

cell division cycle 42
OMIM: 116952, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CDC42 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Takenouchi-Kosaki syndrome, MIM#616737

Green CDC42 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Takenouchi-Kosaki syndrome, MIM#616737

Green CDC42 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neonatal-onset cytopaenia with dyshaematopoiesis
    • autoinflammation
    • rash
    • HLH

    Green CDC42 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Takenouchi-Kosaki syndrome, MIM#616737

    Red CDC42 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Unknown
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Takenouchi-Kosaki syndrome 616737

    Green CDC42 in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Takenouchi-Kosaki syndrome with thrombocytopenia

    Green CDC42 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Takenouchi-Kosaki syndrome, MIM#616737