CEP120

centrosomal protein 120
OMIM: 613446
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 31 (617761), Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 213300, Short-rib thoracic dysplasia 13 with or without polydactyly 616300