CAKUT
Gene: DSTYK
Original paper in NEJM sequenced their cohort by Sanger and did not assess prevalence of variants in the general population/controls. The splice variant (c.654+1G>A) initially found via WES has 74 hets in gnomAD, c.655-3C>T has 112 hets 1 hom, p.(Arg29Gln) found in 3 of their probands has 228 hets.
This is out of keeping for a rare, monogenic disorder.Created: 12 Oct 2021, 9:03 a.m. | Last Modified: 12 Oct 2021, 9:03 a.m.
Panel Version: 1.164
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for DSTYK were set to Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
Mode of inheritance for DSTYK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
DSTYK was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list
DSTYK was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen