SPR

sepiapterin reductase
OMIM: 182125
PanelMode of inheritanceDetails
6 panels
R-numbers: R56
Signed-off version 1.121
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
R-numbers: R57
Signed-off version 1.137
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716
R-numbers: R54
Signed-off version 2.13
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Sepiapterin reductase deficiency (Disorders of pterin metabolism), Parkinson Disease and Complex Parkinsonism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY