Undiagnosed metabolic disorders
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
2 reviews
Catherine Snow (Genomics England)
Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. Sepiapterin reductase (SR) deficiency leads to altered tetrahydrobiopterin (BH4) biosynthesis and abnormal biogenic amine metabolism. Most individuals improve with L-dopa administration, therefore treatable tag has been added.Created: 25 Sep 2019, 1:37 p.m. | Last Modified: 25 Sep 2019, 1:38 p.m.
Panel Version: 1.312
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Publications
Sarah Leigh (Genomics England Curator)
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease and Complex Parkinsonism
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
- Sepiapterin reductase deficiency (Disorders of pterin metabolism)
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Brain channelopathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SPR were changed from Sepiapterin reductase deficiency (Disorders of pterin metabolism); Early onset dystonia; Intellectual disability; Parkinson Disease and Complex Parkinsonism to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716; Sepiapterin reductase deficiency (Disorders of pterin metabolism)
Set publications
Catherine Snow (Genomics England)Publications for gene: SPR were set to 27604308
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: spr has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)SPR was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene SPR was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)SPR was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)SPR was created by sleigh