Ophthalmological ciliopathies
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
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome 4
- Senior-Loken syndrome
- 256100 Senior-Loken syndrome-1, 266900
- 609583 Nephronophthisis 1, juvenile
- Nephronophthisis
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NPHP1 was added gene: NPHP1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444 Phenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis