Early onset dystonia
Gene: SPR
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
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.
Comment on mode of inheritance: Most sources say AR for this gene.Created: 27 May 2016, 9:19 a.m.
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SPR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for SPR was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPR was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPR was added to Early onset dystoniapanel. Sources: Expert
SPR was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
SPR was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
SPR was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services