Renal and urinary tract disorders
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
6 reviews
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported in Nephronophthisis 3, 604387 and Renal-hepatic-pancreatic dysplasia 1, 208540 and at least two variants reported in Meckel syndrome 7, 267010Created: 5 Aug 2016, 8:11 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Good evidence in nephronophthisis.Created: 10 May 2016, 12:25 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:21 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Helen Stuart (University of Manchester)
More appropriate for cystic renal disease panelCreated: 17 Oct 2015, 8:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Renal-hepatic-pancreatic dysplasia 1, 208540
- Nephronophthisis 3, 604387
- Renal-Hepatic-Pancreatic Dysplasia
- Meckel syndrome 7, 267010
- Nephronophthisis 3, 604387
- Renal-hepatic-pancreatic dysplasia 1, 208540
- Meckel syndrome 7, 267010
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cholestasis
- CAKUT
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: More appropriate for cystic re
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NPHP3 were changed from Ciliopathy genes associated with cystic kidney disease; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis 3, 604387; Renal-Hepatic-Pancreatic Dysplasia; Meckel syndrome 7, 267010; Nephronophthisis 3, 604387Renal-hepatic-pancreatic dysplasia 1, 208540Meckel syndrome 7, 267010 to Ciliopathy genes associated with cystic kidney disease; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis 3, 604387; Renal-Hepatic-Pancreatic Dysplasia; Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: NPHP3
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Nephronophthisis 3, 604387Renal-hepatic-pancreatic dysplasia 1, 208540Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia for gene: NPHP3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPHP3 was added gene: NPHP3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis 3, 604387