DDG2P
Gene: DSTYK

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23862974). The DDG2P confidence category for the disease Autosomal Recessive Complicated Spastic Paraparesis SPG23 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:28157540).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Complicated Spastic Paraparesis SPG23; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019).
Created: 19 Apr 2019, 2:47 p.m.

Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'.
Created: 19 Apr 2019, 2:45 p.m.

New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 19 Apr 2019, 2:40 p.m.

Original DDG2P rating for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 1.14

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
Autosomal Recessive Complicated Spastic Paraparesis SPG23

OMIM

612666

Clinvar variants

Variants in DSTYK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: DSTYK.

4 Oct 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Apr 2019, Gel status: 4