RNASEH1

ribonuclease H1
OMIM: 604123, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RNASEH1 in Mendeliome


Version 2.636

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479

Green RNASEH1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479

    Green RNASEH1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.256

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, MONDO:0018002

    Green RNASEH1 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, MONDO:0014656