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  2. Renal ciliopathies
  3. NPHP4
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Renal ciliopathies

Gene: NPHP4

Green List (high evidence)
NPHP4 (nephrocystin 4)
EnsemblGeneIds (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 Nephronophthisis
Created: 19 Jan 2017, 3:26 p.m.
Created: 19 Jan 2017, 3:26 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.402

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis 4, 606966
OMIM
607215
Clinvar variants
Variants in NPHP4
Penetrance
None
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NPHP4 was added gene: NPHP4 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome; Nephronophthisis; Senior-Loken syndrome 4, 606996; Nephronophthisis 4, 606966