This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
Gene: NPHP4
NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NPHP4 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)NPHP4 was created by Sarah Leigh