Neonatal cholestasis
Gene: NPHP4EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. However, the phenotypes associated with this gene do not appear to have any involvement with liver disease.Created: 15 Aug 2018, 2:25 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Nephronophthisis 4 606966
- Senior-Loken syndrome 4 606996
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Laterality disorders and isomerism
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nphp4 has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to NPHP4. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)NPHP4 was created by Ellen McDonagh