Renal and urinary tract disorders
Gene: NPHP4Comment when marking as ready: Associated with phenotypes in OMIM and with Nephronophthisis 4 606966 in G2P. At least five variants reported in Nephronophthisis 4 606966 and at least two in Senior-Loken syndrome 4 606996Created: 5 Aug 2016, 8:15 a.m.
Comment on list classification: Good evidence in nephronophthisis.Created: 10 May 2016, 12:28 p.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 4
Publications
Miranda Durkie: No current test experience but
Phenotypes for gene: NPHP4 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Added phenotypes Nephronophthisis 4 for gene: NPHP4
gene: NPHP4 was added gene: NPHP4 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Ciliopathy genes associated with cystic kidney disease