Unexplained kidney failure in young people
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
1 review
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Phenotypes
-
- Nephronophthisis 3, 604387
- Renal-hepatic-pancreatic dysplasia 1, 208540
- Meckel syndrome 7, 267010
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- CAKUT
- Paediatric or syndromic cardiomyopathy
- Cholestasis
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- Retinal disorders
- Tubulointerstitial kidney disease
- Familial Neural Tube Defects
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NPHP3 were set to Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010
Upload gene information
Sarah Leigh (Genomics England Curator)NPHP3 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NPHP3 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010
Added New Source
Sarah Leigh (Genomics England Curator)NPHP3 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen NPHP3 was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)NPHP3 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)NPHP3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green