Genomics England
GMS Panels
Panels
Genes and Entities

SPR

sepiapterin reductase
OMIM: 182125
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.26
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Sepiapterin reductase deficiency (Disorders of pterin metabolism), Parkinson Disease and Complex Parkinsonism