MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MT-RNR1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.487

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • CARDIOMYOPATHY, RESTRICTIVE
  • AUDITORY NEUROPATHY
Tags
  • locus-type-rna-ribosomal

Green MT-RNR1 in Inborn errors of metabolism


Version 2.189
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • AUDITORY NEUROPATHY
    • CARDIOMYOPATHY, RESTRICTIVE

    Green MT-RNR1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.418

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Parkinsonism, deafness, and sensory-motor axonal neuropathy

    Green MT-RNR1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.206
    Latest signed off version: v2.5 (13 Feb 2020)

    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

    Green MT-RNR1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • CARDIOMYOPATHY, RESTRICTIVE
    • AUDITORY NEUROPATHY
    Tags
    • locus-type-rna-ribosomal

    Amber MT-RNR1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.64
    Latest signed off version: v1.36 (5 Aug 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Parkinsonism, deafness, and sensory-motor axonal neuropathy

    No list MT-RNR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.162
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green MT-RNR1 in Severe Paediatric Disorders


    Version 1.84

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • CARDIOMYOPATHY, RESTRICTIVE
    • DEAFNESS, AMINOGLYCOSIDE-INDUCED
    • AUDITORY NEUROPATHY