Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: DSTYK

DSTYK (dual serine/threonine and tyrosine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 6 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

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.
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

23862974

Created: 12 Oct 2021, 4:14 a.m.
Last Modified: 12 Oct 2021, 4:14 a.m.
Panel version: 0.89

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 18 Sep 2020, 7:50 a.m.
Last Modified: 18 Sep 2020, 7:50 a.m.
Panel version: 0.74

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Congenital anomalies of kidney and urinary tract 1, MIM# 610805

Tags

disputed

OMIM

612666

Clinvar variants

Variants in DSTYK

Penetrance

None

Publications

Panels with this gene