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Research panel - Severe Paediatric Disorders

Gene: SPR

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SPR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3); Mode of inheritance: ?Autosomal dominant, Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SPR were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SPR.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SPR. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SPR was added gene: SPR was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPR was set to