This Panel is marked as Internal
Joubert syndrome
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
1 review
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
-
- Phenotypes
-
- Joubert syndrome, Nephronophthisis
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Tubulointerstitial kidney disease
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Fetal anomalies
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)NPHP1 was added to Joubert syndromepanel. Sources: Expert Review
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)NPHP1 was created by PennyC