Hereditary Spastic Paraplegia - paediatric
Gene: DSTYKEnsemblGeneIds (GRCh38): ENSG00000133059
EnsemblGeneIds (GRCh37): ENSG00000133059
OMIM: 612666, Gene2Phenotype
DSTYK is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Spastic paraplegia-23 is an autosomal recessive neurologic disorder characterized 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.Created: 18 Sep 2020, 7:41 a.m. | Last Modified: 18 Sep 2020, 7:41 a.m.
Panel Version: 0.120
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 23, MIM# 270750
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 23, MIM#270750
- Tags
- OMIM
- 612666
- Clinvar variants
- Variants in DSTYK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: DSTYK. Tag founder tag was added to gene: DSTYK.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dstyk has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DSTYK were changed from Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR to Spastic paraplegia 23, MIM#270750
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DSTYK were set to
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 BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dstyk has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DSTYK was added gene: DSTYK was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR