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Mendeliome

Gene: DSTYK

Amber List (moderate evidence)

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

7 individuals with CAKUT (3 also had seizures) from the original family reported in NEJM with c.654+1G>A underwent exome sequencing and not additional cause of CAKUT was identified. There is incomplete penetrance of the variant within the family. A significant excess of LOF DSTYK variants in CAKUT (OR 9.13, P=0.0065, 5/36,82) and epilepsy cases (OR 6.2, P=0.0135, 7/7,591) versus controls (2/13,436) in a phenome-wide association study using the UKBB. Penetrance of obstructive uropathy was ~20-40% in 3 different Dstyk -/- mouse models. Evidence suggests LOF variants could be a low penetrant cause of CAKUT with variable expressivity.
Created: 28 Feb 2025, 9:27 a.m. | Last Modified: 28 Feb 2025, 9:27 a.m.
Panel Version: 1.2325

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital anomalies of kidney and urinary tract 1 MONDO:0012561

Publications

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, 4:13 a.m. | Last Modified: 12 Oct 2021, 4:13 a.m.
Panel Version: 0.9364

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Disputed gene-disease association as original variants present at relatively high pop frequency as per review by Ain Roesley.

Bi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.
Created: 19 Sep 2020, 7:11 a.m. | Last Modified: 12 Oct 2021, 9:05 a.m.
Panel Version: 0.9365

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract 1, MIM# 610805
  • Spastic paraplegia 23, MIM# 270750
Tags
SV/CNV
OMIM
612666
Clinvar variants
Variants in DSTYK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dstyk has been classified as Amber List (Moderate Evidence).

12 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

12 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSTYK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

19 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DSTYK.

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dstyk has been classified as Green List (High Evidence).

19 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750

19 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSTYK were set to

19 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSTYK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSTYK was added gene: DSTYK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSTYK was set to Unknown