Likely inborn error of metabolism
Gene: SPR

SPR (sepiapterin reductase)
EnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on 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.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 25 Sep 2019, 1:28 p.m. | Last Modified: 25 Sep 2019, 1:28 p.m.

Panel Version: 1.279

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716

Publications

Created: 25 Sep 2019, 1:28 p.m.
Last Modified: 25 Sep 2019, 1:28 p.m.
Panel version: 1.279

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, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease and Complex Parkinsonism

Created: 6 Jan 2017, 2:03 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH
NHS GMS

Phenotypes

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Sepiapterin reductase deficiency (Disorders of pterin metabolism)

Tags

treatable

OMIM

182125

Clinvar variants

Variants in SPR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPR were changed from Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716; Sepiapterin reductase deficiency (Disorders of pterin metabolism)

25 Sep 2019, Gel status: 3