Unexplained young onset end-stage renal disease
Gene: DSTYK
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 4 Aug 2016, 12:25 p.m.
Although a high profile NEJM paper shows variants in this gene in families with kidney disease, I am not yet convinced that these were true congenital malformations rather than degeneration of normally developed kidneys. More studies are needed here.Created: 22 Apr 2016, 11:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: Changed the status of this gene due to a third reviewer's opinion.Created: 22 Apr 2016, 12:29 p.m.
Comment on list classification: Promoted from red to green as two reviewers in agreement. Confirmed DD gene.Created: 29 Mar 2016, 10:40 a.m.
gene: DSTYK was added gene: DSTYK was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux