Neurotransmitter disorders
Gene: SPRComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for SPR were set to 27830117; 11443547; 22522443; 15241655; 18502672;27604308
Publications for SPR were set to 27830117;11443547; 22522443;15241655;18502672
SPR was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Publications for SPR were set to 27830117;
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
SPR was created by Manju
SPR was added to Neurotransmitter disorderspanel. Sources: Literature