Unexplained young onset end-stage renal disease
Gene: NPHP3
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported in Nephronophthisis 3, 604387 and Renal-hepatic-pancreatic dysplasia 1, 208540 and at least two variants reported in Meckel syndrome 7, 267010Created: 5 Aug 2016, 8:11 a.m.
Comment on list classification: Good evidence in nephronophthisis.Created: 10 May 2016, 12:25 p.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:21 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
More appropriate for cystic renal disease panelCreated: 17 Oct 2015, 8:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: NPHP3 was added gene: NPHP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia; Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540