This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: SPR
SPR (sepiapterin reductase)
EnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:34 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dopa-Responsive Dystonia
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
- paediatric form of dopa responsive dystonia
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1155/
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Neurotransmitter disorders
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Brain channelopathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SPR was created by ellenmcdonagh
10 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SPR was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert list