CEP57

centrosomal protein 57
OMIM: 607951, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEP57 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, #MIM 614114

Green CEP57 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, #MIM 614114

Green CEP57 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, MIM#614114

Green CEP57 in Fetal anomalies


Version 1.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, #MIM 614114