NPHP3

PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 3 604387, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540, MECKEL SYNDROME TYPE 7 267010
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME TYPE 7, RENAL-HEPATIC-PANCREATIC DYSPLASIA, NEPHRONOPHTHISIS TYPE 3
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
Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
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
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
Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
R-numbers: R202
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal-hepatic-pancreatic dysplasia 1, MIM 208540, Meckel syndrome 7, MIM 267010, Nephronopthisis 3 MIM 604387
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 7, 267010, Renal-Hepatic-Pancreatic Dysplasia, Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 3, 604387, Renal-hepatic-pancreatic dysplasia 1, 208540