Early onset dystonia
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
3 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Comment from the Parkinson panel: Biallelic mutations cause early onset dopa-responsive dystonia, delayed psychomotor development SPR encodes for a component of the tetrahydrobiopterin (BH4) synthetic pathway. SPR biallelic mutations result ultimately in dopamine and serotonin deficiencies in the central nervous system, causing neurologic deterioration. PMID 22522443 (review of all pt reported: in infancy or childhood most common features included motor and language delay, axial hypotonia, dystonia, weakness, oculogyric crises, and diurnal fluctuation of symptoms with sleep benefit. Common features include dysarthria, parkinsonism, hyperreflexia, autonomic signs, sleep disturbances, and psychiatric/behavioral abnormalities. High variability in the presentation and severity of symptoms. TREATABLE L-dopa in combina-tion with a peripheral decarboxylase inhibitor or with 5-hydroxytrypto-phan (5-HTP)/carbidopa. Keep this gene in both this gene to both the dystonia panel and pd?Created: 15 Dec 2016, 11:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Added treatable tag.Created: 8 Dec 2016, 3:02 p.m.
Comment on list classification: It is a confirmed DD gene for DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY which includes dystonia, and multiple cases reported in OMIM fir different variants.Created: 25 Aug 2016, 10:07 a.m.
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, 8:57 a.m.
Comment on mode of inheritance: Confirmed within the NHNN Neurogenetics genetic testing manual for dystonia.Created: 10 Jun 2016, 7:31 a.m.
Comment on list classification: Should be green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.Created: 10 Jun 2016, 7:31 a.m.
A "Dominant" mode of inheritance for the "Dopa-Responsive Dystonia" phenotype was collected from the Illumina source, whereas "AR" (autosomal recessive) was submitted in the expert list for "paediatric form of dopa responsive dystonia".Created: 16 Jul 2015, 1:55 p.m.
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Most sources say AR for this gene.Created: 27 May 2016, 9:19 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
- paediatric form of dopa responsive dystonia
- Tags
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1155/
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SPR were changed from Dopa-Responsive Dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716; paediatric form of dopa responsive dystonia
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SPR was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SPR was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SPR was added to Early onset dystoniapanel. Sources: Expert
Added New Source
GEL ()SPR was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SPR was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SPR was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services