Unexplained kidney failure in young people
Gene: DSTYKEnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 12 panels
2 reviews
Zornitza Stark (Australian Genomics)
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
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
- OMIM
- 612666
- Clinvar variants
- Variants in DSTYK
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Hereditary spastic paraplegia
- DDG2P
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- CAKUT
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DSTYK were set to {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list
clearsources
Sarah Leigh (Genomics England Curator)DSTYKAll sources for gene: DSTYK were removed
Upload gene information
Sarah Leigh (Genomics England Curator)DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list
Created
Sarah Leigh (Genomics England Curator)DSTYK was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)DSTYK was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green