Dystonia - childhood onset

Gene: SPR

Green List (high evidence)

SPR (sepiapterin reductase)
EnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 15 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sepiapterin reductase deficiency
  • Dopa-Responsive Dystonia
  • paediatric form of dopa responsive dystonia
  • Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Tags
treatable
OMIM
182125
Clinvar variants
Variants in SPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: SPR.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SPR was added gene: SPR was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to 18502672; 27830117; 27604308; 22522443; 11443547; 20301334; 15241655 Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716