This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: DSTYK
DSTYK (dual serine/threonine and tyrosine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 12 panels
1 review
Rebecca Foulger (Genomics England curator)
Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association.Created: 11 May 2017, 9:53 a.m.
In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750, also called 'Spastic paraplegia with pigmentary abnormalities), Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region.Created: 11 May 2017, 9:52 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Spastic paraplegia 23, 270750
- Disordered pigmentation, spastic paraparesis and peripheral neuropathy
- SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES
- Tags
- OMIM
- 612666
- Clinvar variants
- Variants in DSTYK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- CAKUT
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)DSTYK was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)DSTYK was created by rfoulger