Unexplained young onset end-stage renal disease - additional genes

Gene: DSTYK

Green List (high evidence)

DSTYK (dual serine/threonine and tyrosine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 12 panels

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 4 Aug 2016, 12:25 p.m.

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DSTYK were changed from vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} to Congenital anomalies of kidney and urinary tract 1, OMIM:610805

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK

25 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DSTYK was added gene: DSTYK was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux