CEP120

centrosomal protein 120
OMIM: 613446
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly, Jeune syndrome, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 213300, Short-rib thoracic dysplasia 13 with or without polydactyly 616300