PanelApp
  1. Genes and Genomic Entities
  2. RNASEH1

RNASEH1

ribonuclease H1
OMIM: 604123, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RNASEH1 in Mendeliome


Version 2.362

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 2.1

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 Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.26

    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