Ocular coloboma
Gene: NPHP1
NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:39 a.m.
Penny Clouston (Oxford)
On current diagnostic panel and positive familes within patient cohort. Evidence from literature.Created: 15 Mar 2016, 3:20 p.m.
Phenotypes
Joubert syndrome; Nephronophthisis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review
- Phenotypes
-
- Joubert syndrome, Nephronophthisis
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
1 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
1 Dec 2016, Gel status: 4
Upload gene information
Alice Gardham (Genomics England)NPHP1 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
1 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NPHP1 was created by ellenmcdonagh
1 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Ocular colobomapanel. Sources: Expert Review