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Fetal anomalies

Gene: DSTYK

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association with CAKUT is disputed.

Bi-allelic variants and SPG: 3 families but founder effect, and onset typically in childhood.
Created: 17 Nov 2021, 8:58 p.m. | Last Modified: 17 Nov 2021, 8:58 p.m.
Panel Version: 0.542

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Note: Amber for SPG23 association
OMIM:270750
Spastic paraplegia-23 is an autosomal recessive neurologic disorder characterised by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect. Zebrafish model has multiple organ malformations.


Note: Red gene for CAKUT OMIM:612666
Created: 17 Nov 2021, 6:31 a.m. | Last Modified: 17 Nov 2021, 6:31 a.m.
Panel Version: 0.535

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 23, MIM# 270750

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Congenital anomalies of kidney and urinary tract 1, MIM# 610805
  • Spastic paraplegia 23, MIM# 270750
OMIM
612666
Clinvar variants
Variants in DSTYK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dstyk has been classified as Red List (Low Evidence).

17 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750

17 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSTYK were set to

17 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dstyk has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSTYK was added gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1