Genomics England
GMS Panels
Panels
Genes and Entities

NPHP3

nephrocystin 3
OMIM: 608002
PanelMode of inheritanceDetails
8 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 9.0
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 7.0
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 7.0
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 7.0
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 6.0
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 5.0
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 9.0
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 3.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 3, OMIM:604387, nephronophthisis 3, MONDO:0011456, Renal-hepatic-pancreatic dysplasia 1, OMIM:208540, renal-hepatic-pancreatic dysplasia 1, MONDO:0008833, Meckel syndrome 7, OMIM:267010, NPHP3-related Meckel-like syndrome, MONDO:0009966