SPR

sepiapterin reductase
OMIM: 182125, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SPR in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties Dopa-Responsive Dystonia Sepiapterin reductase deficiency Tags treatable
Green SPR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dopa-Responsive Dystonia Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 paediatric form of dopa responsive dystonia Tags treatable
Green SPR in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Green SPR in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dopa-Responsive Dystonia Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 paediatric form of dopa responsive dystonia Tags treatable
Green SPR in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and 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, 612716
Red SPR in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes paediatric form of dopa responsive dystonia Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Dopa-Responsive Dystonia Tags treatable
Green SPR in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sepiapterin reductase deficiency (Disorders of pterin metabolism) Early onset dystonia Intellectual disability Parkinson Disease and Complex Parkinsonism
Green SPR in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Intellectual disability Early onset dystonia Sepiapterin reductase deficiency (Disorders of pterin metabolism) Parkinson Disease and Complex Parkinsonism Tags treatable
Red SPR in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Green SPR in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and 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 612716
Green SPR in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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 DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Tags treatable
Green SPR in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	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 612716 Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716
Green SPR in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	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
Green SPR in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH 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 SPR in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716