1. Panels
  2. Hereditary neuropathy or pain disorder
  3. DSTYK
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

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 12 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Comment on phenotypes: Monoallelic DSTYK variants are associated with Congenital anomalies of kidney and urinary tract 1 (OMIM:610805).
Created: 4 Nov 2024, 3:16 p.m. | Last Modified: 4 Nov 2024, 3:16 p.m.
Panel Version: 6.64
Two DSTYK variants (as compound heterozygotes) have been associated with Spastic paraplegia 23, autosomal recessive (OMIM:270750) in 3 unrelated families of Middle Eastern origin. This combination of variants in the reported families was revealed to be founder effect by haplotype analysis (PMID: 28157540).
Created: 4 Nov 2024, 3:14 p.m. | Last Modified: 4 Nov 2024, 3:14 p.m.
Panel Version: 6.62
Comment on phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
Created: 4 Nov 2024, 3:04 p.m. | Last Modified: 4 Nov 2024, 3:04 p.m.
Panel Version: 6.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 4 Nov 2024, 3:04 p.m.
Last Modified: 4 Nov 2024, 3:04 p.m.
Panel version: 6.62

Alexander Rossor (UCL Institute of Neurology)

I don't know

two families, pn in oroginal family descriptions
Created: 20 Oct 2024, 9:39 a.m. | Last Modified: 20 Oct 2024, 9:39 a.m.
Panel Version: 5.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia; peripheral neuropathy; grey hair

Publications

Created: 20 Oct 2024, 9:39 a.m.
Last Modified: 20 Oct 2024, 9:39 a.m.
Panel version: 5.19

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.300

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 23, autosomal recessive, OMIM:270750
  • hereditary spastic paraplegia 23, MONDO:0010046
Tags
founder-effect
OMIM
612666
Clinvar variants
Variants in DSTYK
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046

4 Nov 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag founder-effect tag was added to gene: DSTYK.

4 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Nov 2024, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DSTYK were changed from Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750