CEP57

centrosomal protein 57
OMIM: 607951, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CEP57 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Green CEP57 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Green CEP57 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
    Green CEP57 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
    Green CEP57 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.1
    Latest signed off version: v2.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 2, OMIM:614114