SPR

sepiapterin reductase
OMIM: 182125, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SPR in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties Sepiapterin reductase deficiency Tags treatable
Green SPR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 paediatric form of dopa responsive dystonia Tags treatable
Green SPR in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green SPR in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 paediatric form of dopa responsive dystonia Tags treatable
Green SPR in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Red SPR in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Red SPR in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags treatable
Green SPR in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Sepiapterin reductase deficiency (Disorders of pterin metabolism)
Green SPR in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Sepiapterin reductase deficiency (Disorders of pterin metabolism) Tags treatable
Red SPR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green SPR in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716
Amber SPR in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green SPR in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags treatable
Green SPR in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags Q1_25_ MOI watchlist_moi Q1_25_ demote_red Q1_25_ expert_review
Green SPR in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags Q1_25_ demote_red Q1_25_ expert_review Q1_25_ MOI watchlist_moi
Green SPR in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags Q1_25_ MOI watchlist_moi