Genomics England

CSPP1

centrosome and spindle pole associated protein 1

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 JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
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 WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
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 Joubert syndrome, Meckel syndrome, Joubert syndrome 21, Meckel-Gruber 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 Joubert syndrome, Meckel syndrome, Joubert syndrome 21, Meckel-Gruber 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 Joubert syndrome, Meckel syndrome, Joubert syndrome 21, Meckel-Gruber syndrome
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genetic Retinal Degeneration Conditions, Joubert syndrome 21,615636
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 21, OMIM:615636, Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342
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 Joubert syndrome 21 615636, ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy, ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Joubert syndrome 21 615636, ORPHA:475 Joubert syndrome, ORPHA:564 Meckel syndrome, ORPHA:475 Joubert syndrome, ORPHA:564 Meckel syndrome