CEP104

centrosomal protein 104
OMIM: 616690
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, 616781
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, 616781
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 25, 616781
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, 616781, Joubert syndrome 25
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, 616781, Joubert syndrome 25
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, 616781, Joubert syndrome 25
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 25, Joubert syndrome 25, 616781