TYMP

thymidine phosphorylase
OMIM: 131222, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green TYMP in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041

Green TYMP in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073

    Green TYMP in Neuromuscular disorders


    Version 5.167
    Latest signed off version: v5.43 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

    Green TYMP in White matter disorders and cerebral calcification - narrow panel


    Version 1.181
    Latest signed off version: v1.12 (2 Mar 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type)

    Green TYMP in White matter disorders - adult onset


    Version 1.16
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
    • Leukoencephalopathy

    Green TYMP in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.126

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type)

    Green TYMP in Mitochondrial DNA maintenance disorder


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041

    Green TYMP in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.460

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
    • Mitochondrial Neurogastrointestinal Encephalopathy Disease

    Green TYMP in Inborn errors of metabolism


    Version 2.141
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial Neurogastrointestinal Encephalopathy Disease
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041

    Green TYMP in Possible mitochondrial disorder - nuclear genes


    Version 1.46
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041

    Green TYMP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type)

    Green TYMP in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.42
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
    • Mitochondrial Neurogastrointestinal Encephalopathy Disease

    Amber TYMP in Hereditary neuropathy NOT PMP22 copy number


    Version 1.27
    Latest signed off version: v1.2 (27 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type)

    Red TYMP in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TYMP in Severe Paediatric Disorders


    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041