Rare multisystem ciliopathy disorders
Gene: NPHP4EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Mutations in at least 5 families with Nephronophthisis and 2 with Senior Loken. On GOS ciliopathy panel. Recognised on G2P as causing NephronophthisisCreated: 19 Jan 2017, 3:26 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Nephronophthisis 4, 606966
- Senior-Loken syndrome 4, 606996
- Nephronophthisis
- Senior-Loken syndrome
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- Complete
- 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
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)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NPHP4 were set to Nephronophthisis 4, 606966;Senior-Loken syndrome 4, 606996
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NPHP4 was created by ellenmcdonagh