Genomics England

CEP290

centrosomal protein 290

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	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)
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.10	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
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	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
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	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
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	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
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	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
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	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