Genomics England
GMS Panels
Panels
Genes and Entities

CEP57

centrosomal protein 57
OMIM: 607951
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 2, OMIM:614114