CEP41

centrosomal protein 41
OMIM: 610523
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 15 614464
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 15
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 15, 614464, JOUBERT SYNDROME 15
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 15
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 15
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 15
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 15 614464