Genomics England

SPR

sepiapterin reductase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 5.0	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 8.0	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 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	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 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green in Likely inborn error of metabolism 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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716, Sepiapterin reductase deficiency (Disorders of pterin metabolism)