CDC42

cell division cycle 42
OMIM: 116952, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber CDC42 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.108

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green CDC42 in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neonatal-onset cytopaenia with dyshaematopoiesis
  • autoinflammation
  • rash
  • HLH
Green CDC42 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
  • Platelet disorder
Tags
  • de novo
Green CDC42 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.92
Latest signed off version: v9.91 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neonatal-onset cytopaenia with dyshaematopoiesis
  • autoinflammation
  • rash
  • HLH
Green CDC42 in Bleeding and platelet disorders


Level 2: Haematology
Version 4.17
Latest signed off version: v4.16 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 616737 Takenouchi-Kosaki syndrome
Red CDC42 in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 5.8
Latest signed off version: v5.7 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
Green CDC42 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Takenouchi-Kosaki syndrome, OMIM:616737
Green CDC42 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CDC42-related Neurodevelopmental Disorder
    Green CDC42 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Takenouchi-Kosaki syndrome, 616737
    • Intellectual disability
    Red CDC42 in Primary lymphoedema


    Level 2: Cardiology
    Version 5.3
    Latest signed off version: v5.2 (12 Aug 2026)

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