Rare multisystem ciliopathy disorders
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Many cases of nephronophthisis 3 as well as one set of siblings with Meckel and one set of siblings with renal-hepatic-pancreatic dysplasia/Meckel overlap. Recognised on G2P and on GOS ciliopathy panelCreated: 19 Jan 2017, 3:24 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Meckel syndrome 7, 267010
- Nephronophthisis 3, 604387
- Renal-hepatic-pancreatic dysplasia 1, 208540
- Nephronophthisis
- Renal-hepatic-pancreatic dysplasia
- Senior-Loken syndrome
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- CAKUT
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Limb disorders
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Familial Neural Tube Defects
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Intellectual disability
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NPHP3 were set to Meckel syndrome 7, 267010;Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NPHP3 was created by ellenmcdonagh