Genomics England
GMS Panels
Panels
Genes and Entities

CEP250

centrosomal protein 250
OMIM: 609689
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780