Genomics England
GMS Panels
Panels
Genes and Entities

CEP78

centrosomal protein 78
OMIM: 617110
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-Rod Dystrophy and Hearing Loss, CRDHL, OMIM: 617236
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-Rod Dystrophy and Hearing Loss, CRDHL, OMIM: 617236