Rare multisystem ciliopathy disorders
Gene: NPHP1EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on phenotypes: NephronophthisisCreated: 28 Aug 2016, 7:26 a.m.
Comment on list classification: Variants within this gene cause Nephronophthisis. Nephronophthisis is a feature of Senior-Loken syndrome, and of Joubert syndrome 4.Created: 28 Aug 2016, 7:26 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 Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Nephronophthisis
- Joubert syndrome 4
- 609583 Nephronophthisis 1, juvenile
- 256100 Senior-Loken syndrome-1, 266900
- Senior-Loken syndrome
- 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
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)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NPHP1 were set to Nephronophthisis;Joubert syndrome 4;609583 Nephronophthisis 1, juvenile;256100 Senior-Loken syndrome-1, 266900
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NPHP1 were set to Nephronophthisis
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NPHP1 were set to
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NPHP1 were set to 15138899; 15689444; 22982934
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NPHP1 was created by ellenmcdonagh