CAKUT

Gene: DSTYK

Red List (low evidence)

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

• 23862974

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux

Green List (high evidence)

Red List (low evidence)

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.