Early-onset Parkinson disease
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 17 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Sepiapterin reductase deficiency (SPR) has shown both AD and AR inheritance of variants in the SPR gene and can have variable features of parkinsonism (PMID: 22522443). On review of 43 cases from 23 medical centres with SPR, a portion was shown to exhibit parkinsonian signs, including tremor (15/43), bradykinesia, (14/43), masked facies (13/43) rigidity (11/43) (PMID: 22522443).
Linkage studies have shown DNA polymorphisms in a highly intercorrelated linkage disequilibrium block (PARK3 locus), which includes the SPR gene, appeared to be associated with both sporadic and familial Parkinson's disease (PMID: 11920285; 14663042; 16443856). The Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium evaluated the role of SPR gene polymorphisms in diverse populations of PD (6547 cases and 9321 controls). However, the study revealed no association between the SPR gene and PD worldwide (PMID: 21782285). Other authors have suggested that the PARK3 loci harbours more than one genetic factor contributing to PD pathogenesis (PMID: 32813147).Created: 7 Sep 2023, 7:06 a.m. | Last Modified: 7 Sep 2023, 7:06 a.m.
Panel Version: 0.264
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (MIM# 612716)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: spr has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SPR were changed from to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SPR were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SPR was set to Unknown