CEP57

centrosomal protein 57
OMIM: 607951, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CEP57 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

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

Green CEP57 in Fetal anomalies


Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

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

Green CEP57 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 Growth failure in early childhood


    Version 1.109
    Latest signed off version: v1.4 (3 Mar 2020)

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

    Green CEP57 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2

    Green CEP57 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 2, 614114