Genomics England

NPHP1

nephrocystin 1

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease Signed-off version 4.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME TYPE 4 609583, NEPHRONOPHTHISIS TYPE 1 256100, SENIOR-LOKEN SYNDROME TYPE 1 266900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SENIOR-LOKEN SYNDROME TYPE 1, NEPHRONOPHTHISIS TYPE 1, JOUBERT 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 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583, SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1)
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 3.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders
Green in Tubulointerstitial kidney disease R-numbers: R202 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 4 MIM 609583, Senior-Loken syndrome-1 MIM 266900, Nephronopthisis 1, juvenile MIM 256100
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 4 609583, Ciliopathy genes associated with cystic kidney disease, Senior-Loken syndrome-1 266900, Nephronophthisis 1, juvenile 256100