SPR

sepiapterin reductase
OMIM: 182125, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
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 1.105

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 1.78

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 1.111

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

Amber SPR in Ataxia and cerebellar anomalies - narrow panel


Version 3.1
Latest signed off version: v3.0 (22 Mar 2022)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
    Tags
    • Q2_21_rating

    Red SPR in Paroxysmal central nervous system disorders


    Version 2.1
    Latest signed off version: v2.0 (22 Mar 2022)

    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 Neurodegenerative disorders - adult onset


    Version 3.1
    Latest signed off version: v3.0 (22 Mar 2022)

    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 1.514

    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 Inborn errors of metabolism


    Version 3.2
    Latest signed off version: v3.0 (22 Mar 2022)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.1
    Latest signed off version: v2.0 (22 Mar 2022)

    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 3.1
    Latest signed off version: v3.0 (22 Mar 2022)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1
    Latest signed off version: v3.0 (22 Mar 2022)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2022)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 3.1
    Latest signed off version: v3.0 (22 Mar 2022)

    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 movement disorder


    Version 2.1
    Latest signed off version: v2.0 (22 Mar 2022)

    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 or chorea or related movement disorder


    Version 2.1
    Latest signed off version: v2.0 (22 Mar 2022)

    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 1.117

    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