Ductal plate malformation
Gene: NPHP3
NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
2 reviews
Ivone Leong (Genomics England Curator)
NPHP3 was not promoted from grey to green despite the review by Bill Griffiths (Cambridge University Hospitals) as NPHP3 is already a green gene on the Rare multisystem ciliopathy disorders panel (https://panelapp.genomicsengland.co.uk/panels/150/) If a patient is suspected of having a ciliopathy then the Rare multisystem ciliopathy disorders panel should be applied in addition to this panel for genome analysis.Created: 28 Nov 2018, 10:11 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Renal-hepatic-pancreatic dysplasia 1 (208540)
- Nephronophthisis 3 (604387)
- Meckel syndrome 7 (267010)
- Tags
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- CAKUT
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Intellectual disability
- 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
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NPHP3.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: NPHP3 was not promoted from gr
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to NPHP3. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NPHP3 was added gene: NPHP3 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1 (208540); Nephronophthisis 3 (604387); Meckel syndrome 7 (267010)