Renal and urinary tract disorders
Gene: DSTYKEnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 12 panels
5 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypodysplasia; ureteropelvic junction obstruction; vesicoureteric reflux
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 4 Aug 2016, 12:25 p.m.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal hypodysplasia
- vesicoureteric reflux
- {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
- ureteropelvic junction obstruction
- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
- {Congenital anomalies of kidney and urinary tract, susceptibility to}
- OMIM
- 612666
- Clinvar variants
- Variants in DSTYK
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Unexplained kidney failure in young people
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Unexplained young onset end-stage renal disease - additional genes
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DSTYK was added gene: DSTYK was added to Renal and urinary tract disorders. 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 ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; Renal hypodysplasia; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; vesicoureteric reflux