TWNK

twinkle mtDNA helicase
OMIM: 606075, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green TWNK in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.12

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286

    Green TWNK in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Perrault syndrome 5, MIM# 616138

    Green TWNK in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
    • Perrault syndrome 5 616138
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286

    Green TWNK in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286

    Green TWNK in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
    • Perrault syndrome 5 616138
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286

    Green TWNK in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red TWNK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245
    • Perrault syndrome 5, OMIM #616138
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286

    Green TWNK in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7, 271245
    • Ataxia Neuropathy Spectrum Disorders, Dominant
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
    • Perrault syndrome 5, 616138
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
    • Spinocerebellar Ataxia, Recessive

    Amber TWNK in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245

    Amber TWNK in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.143

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
    • Perrault syndrome 5 616138
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286

    Green TWNK in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Perrault syndrome (MIM#616138)
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286

    Green TWNK in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286

    Green TWNK in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)

    Green TWNK in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Perrault syndrome 5, 616138

    Green TWNK in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia infantile-onset

    Green TWNK in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
    • Perrault syndrome 5 616138
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286

    Green TWNK in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245
    • Perrault syndrome 5, MIM#616138

    Red TWNK in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245

    Green TWNK in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)