Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Undiagnosed metabolic disorders v1.625 SPR Arina Puzriakova 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)
Undiagnosed metabolic disorders v1.312 SPR Catherine Snow changed review comment from: 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.; to: 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.
Undiagnosed metabolic disorders v1.312 SPR Catherine Snow Publications for gene: SPR were set to 27604308
Undiagnosed metabolic disorders v1.311 SPR Catherine Snow Classified gene: SPR as Green List (high evidence)
Undiagnosed metabolic disorders v1.311 SPR Catherine Snow Gene: spr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.310 SPR Catherine Snow reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22018912, 22522443, 22018912, 24588500, 28189489, 21431957, 16650784; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders SPR Sarah Leigh reviewed SPR