Neurotransmitter disorders

Gene: SPR

Green List (high evidence)

SPR (sepiapterin reductase)
EnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 18 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 phenotype
Created: 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 phenotype
Created: 25 May 2017, 5:12 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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, 612716
  • Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
  • Dopa-Responsive Dystonia
  • Sepiapterin reductase deficiency
Tags
treatable
OMIM
182125
Clinvar variants
Variants in SPR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

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.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPR were set to 27830117; 11443547; 22522443; 15241655; 18502672;27604308

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPR were set to 27830117;11443547; 22522443;15241655;18502672

25 May 2017, Gel status: 0

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

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPR were set to 27830117;

25 May 2017, Gel status: 0

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

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

SPR was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

SPR was added to Neurotransmitter disorderspanel. Sources: Literature