Unexplained kidney failure in young people
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, 9:01 a.m. | Last Modified: 12 Oct 2021, 9:01 a.m.
Panel Version: 1.96
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Publications
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 4 Aug 2016, 12:25 p.m.
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for DSTYK were set to {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
This gene has been classified as Green List (High Evidence).
DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list
DSTYKAll sources for gene: DSTYK were removed
DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list
DSTYK was created by sleigh
DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green