1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. SPR
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: SPR

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 2:26 p.m. | Last Modified: 11 Mar 2026, 2:26 p.m.
Panel Version: 7.15
Created: 11 Mar 2026, 2:26 p.m.
Last Modified: 11 Mar 2026, 2:26 p.m.
Panel version: 7.15

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Sepiapterin reductase deficiency typically follows an autosomal recessive pattern of inheritance. Two cases with different heterozygous variants have been reported (PMID: 29147684, 15241655) although with reduced penetrance in the familial cases and mild form of the disorder in the singleton.

Overall additional evidence is required to conclusively make an association with monoallelic variants and therefore suggesting the MOI is changed from 'Both mono- and biallelic' to 'Biallelic' at the next GMS panel update, with a watchlist_moi tag to monitor for more dominant cases.
Created: 13 Mar 2025, 4:57 p.m. | Last Modified: 13 Mar 2025, 4:57 p.m.
Panel Version: 6.7
Created: 13 Mar 2025, 4:57 p.m.
Last Modified: 13 Mar 2025, 4:57 p.m.
Panel version: 6.7

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ MOI was removed from gene: SPR. Tag watchlist_moi was removed from gene: SPR.

11 Mar 2026, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SPR. Mode of inheritance for gene SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Mar 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ MOI tag was added to gene: SPR. Tag watchlist_moi tag was added to gene: SPR.

13 Mar 2025, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Mar 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPR were changed from Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SPR. Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SPR was added gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SPR was set to