Genomics England

centrosomal protein 104

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 614615
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME
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 1.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 25, 616781, Joubert syndrome 25
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 25, 616781, Joubert syndrome 25
Green in Renal ciliopathies 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 Joubert syndrome 25, 616781, Joubert syndrome 25
Green in Unexplained paediatric onset end-stage renal disease R-numbers: R257 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 25, Joubert syndrome 25, 616781