Ductal plate malformation
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Nephronophthisis 4 (606966)
- Tags
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Tubulointerstitial kidney disease
- Proteinuric renal disease
- Unexplained kidney failure in young people
- Laterality disorders and isomerism
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Skeletal dysplasia
- Intellectual disability
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NPHP4.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: NPHP3 was not promoted from gr
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to NPHP4. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NPHP4 was added gene: NPHP4 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 (606966)