PanelApp
  1. Genes and Genomic Entities
  2. MT-RNR1

MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MT-RNR1 in Mendeliome


Version 1.3512

1 review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-RNR1-related
Tags
  • mtDNA

Green MT-RNR1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial disease (MONDO:0044970), MT-RNR1-related
    Tags
    • mtDNA

    Green MT-RNR1 in Pharmacogenomics_Paediatric


    Level 2: Screening
    Version 0.50

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Gentamicin toxicity
    Tags
    • mtDNA

    Green MT-RNR1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aminoglycoside sensitivity
    Tags
    • pharmacogenomic

    Green MT-RNR1 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, mitochondrial, modifier of MIM# 580000