Fetal anomalies
Gene: DSTYK

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

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

28157540,23862974

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

Created: 17 Nov 2021, 6:31 a.m.
Last Modified: 17 Nov 2021, 6:31 a.m.
Panel version: 0.535

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