CEP57

centrosomal protein 57
OMIM: 607951, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CEP57 in Mendeliome


Version 1.1891

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 0.6063

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

Red CEP57 in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • NA

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 1.255

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