Paroxysmal Dyskinesia
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Shekeeb Mohammad (Children's Hospital at Westmead)
while diurnal variation is described and oculogyric crises are episodic, this would not be a true paroxysmal dyskinesia and described patients often have baseline hypotonia and motor issues with exercise or diurnal pattern of dystonia and oculogyric crises till treated optimally with levodopa. (similar to other neurotransmitter disorders that respond to levodopa)Created: 6 Dec 2024, 7:22 p.m. | Last Modified: 6 Dec 2024, 7:22 p.m.
Panel Version: 0.133
Phenotypes
dopamine responsive dystonia; oculogyric crises
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Children's Hospital Neurology Department
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Brain Channelopathies
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Regression
- Aminoacidopathy
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spr has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SPR were changed from to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SPR were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spr has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPR was added gene: SPR was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department Mode of inheritance for gene: SPR was set to Unknown