CDC40

cell division cycle 40
OMIM: 605585, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber CDC40 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.1
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 15, OMIM:619302
Red CDC40 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
    Red CDC40 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.2
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
    Tags
    • watchlist