Likely inborn error of metabolism - targeted testing not possible
Gene: SPR
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
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
Tag treatable tag was added to gene: SPR.
Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Publications for gene: SPR were set to 27604308
Gene: spr has been classified as Green List (High Evidence).
Source NHS GMS was added to SPR. Source London North GLH was added to SPR.
Sarah Leigh: Associated with relevant pheno
gene: SPR was added gene: SPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 27604308 Phenotypes for gene: SPR were set to Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism