CEP290

centrosomal protein 290
OMIM: 610142
PanelMode of inheritanceDetails
10 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 14 209900, LEBER CONGENITAL AMAUROSIS TYPE 10 611755, JOUBERT SYNDROME TYPE 5 610188, SENIOR-LOKEN SYNDROME TYPE 6 610189, MECKEL SYNDROME TYPE 4 611134
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME TYPE 5, LEBER CONGENITAL AMAUROSIS TYPE 10, SENIOR-LOKEN SYNDROME TYPE 6, BARDET-BIEDL SYNDROME TYPE 14, MECKEL SYNDROME TYPE 4
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900, BARDET-BIEDL SYNDROME TYPE 14 (BBS14)
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
610189, Meckel syndrome 4, Senior-Loken syndrome, 611755, Joubert syndrome 5, Joubert syndrome with oculorenal defect, 610188, Senior-Loken syndrome 6, 611134, Meckel syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
610189, Meckel syndrome 4, Senior-Loken syndrome, 611755, Joubert syndrome 5, Joubert syndrome with oculorenal defect, 610188, Senior-Loken syndrome 6, 611134, Meckel syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
610189, Meckel syndrome 4, Senior-Loken syndrome, 611755, Joubert syndrome 5, Joubert syndrome with oculorenal defect, 610188, Senior-Loken syndrome 6, 611134, Meckel syndrome
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Bardet-Biedl syndrome 14 (AR), Joubert syndrome 5 (AR), Leber congenital amaurosis 10 (AR), Meckel syndrome type 4 (AR), Senior-Loken syndrome 6 (AR), Leber congenital amaurosis type 10, Joubert syndrome 5, 610188, Senior-Loken syndrome 6, 610189, Leber congenital amaurosis 10, 611755, Meckel syndrome 4, 611134, Bardet-Biedl syndrome 14, 209900, Leber Congenital Amaurosis, Eye Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189, Joubert syndrome 5 610188, Bardet-Biedl syndrome 14 615991, Leber congenital amaurosis 10
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 6, 610189, Leber congenital amaurosis 10, 611755, Joubert syndrome 5, 610188, Meckel syndrome 4, 611134, ?Bardet-Biedl syndrome 14, 615991
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755