Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
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.Created: 12 Oct 2021, 4:14 a.m. | Last Modified: 12 Oct 2021, 4:14 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Publications
Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract.Created: 18 Sep 2020, 7:50 a.m. | Last Modified: 18 Sep 2020, 7:50 a.m.
Panel Version: 0.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Publications
Tag disputed tag was added to gene: DSTYK.
Gene: dstyk has been classified as Red List (Low Evidence).
Gene: dstyk has been classified as Green List (High Evidence).
Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Publications for gene: DSTYK were set to
Mode of inheritance for gene: DSTYK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: DSTYK was added gene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSTYK was set to Unknown