1. Genes and Genomic Entities
  2. MT-RNR1

MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MT-RNR1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • CARDIOMYOPATHY, RESTRICTIVE
  • AUDITORY NEUROPATHY
Tags
  • locus-type-rna-ribosomal
  • gene-checked
Green MT-RNR1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • AUDITORY NEUROPATHY
    • CARDIOMYOPATHY, RESTRICTIVE
    Tags
    • locus-type-rna-ribosomal
    • gene-checked
    Green MT-RNR1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Parkinsonism, deafness, and sensory-motor axonal neuropathy
    Tags
    • locus-type-rna-ribosomal
    • gene-checked
    Green MT-RNR1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • hearing loss
    • Mitochondrial-Related Deafness
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • DEAFNESS
    • AUDITORY NEUROPATHY, INCLUDED
    • DEAFNESS
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • CARDIOMYOPATHY, RESTRICTIVE, INCLUDED
    Tags
    • locus-type-rna-ribosomal
    • gene-checked
    Green MT-RNR1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • CARDIOMYOPATHY, RESTRICTIVE
    • AUDITORY NEUROPATHY
    Tags
    • locus-type-rna-ribosomal
    • gene-checked
    Amber MT-RNR1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.43
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Parkinsonism, deafness, and sensory-motor axonal neuropathy
    Tags
    • locus-type-rna-ribosomal
    No list MT-RNR1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed