Genomics England

NPHP3

nephrocystin 3

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 5.4	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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEPHRONOPHTHISIS TYPE 3 604387, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540, MECKEL SYNDROME TYPE 7 267010
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MECKEL SYNDROME TYPE 7, RENAL-HEPATIC-PANCREATIC DYSPLASIA, NEPHRONOPHTHISIS TYPE 3
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 4.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis
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 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders
Green in Tubulointerstitial kidney disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R202 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM 208540, Meckel syndrome 7, MIM 267010, Nephronopthisis 3 MIM 604387