Dystonia - childhood onset
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
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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
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Early onset or syndromic epilepsy
History Filter Activity
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
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: SPR.
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