Neurotransmitter disorders
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 5:17 p.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): The condition may be frequently mistaken for nonspecific findings such as idiopathic "cerebral palsy", and many individuals benefit from medical therapy (eg, levodopa/carbidopa, 5-hydroxytryptophan)Created: 25 May 2017, 5:16 p.m.
Comment on publications: added publication to support association to phenotypeCreated: 25 May 2017, 5:12 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
- Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
- Sepiapterin reductase deficiency
- Tags
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- 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 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dopa-Responsive Dystonia; Sepiapterin reductase deficiency to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Sepiapterin reductase deficiency
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPR were set to 27830117; 11443547; 22522443; 15241655; 18502672;27604308
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPR were set to 27830117;11443547; 22522443;15241655;18502672
Upload gene information
Louise Daugherty (Genomics England Curator)SPR was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPR were set to 27830117;
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716;Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties;Dopa-Responsive Dystonia;Sepiapterin reductase deficiency
Created
Manju Kurian (UCL-Institute of Child Health)SPR was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)SPR was added to Neurotransmitter disorderspanel. Sources: Literature