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  3. MT-RNR1
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Transplant Co-Morbidity Superpanel

Gene: MT-RNR1

Green List (high evidence)
MT-RNR1 (mitochondrially encoded 12S RNA)
EnsemblGeneIds (GRCh38): ENSG00000211459
EnsemblGeneIds (GRCh37): ENSG00000211459
OMIM: 561000, Gene2Phenotype
MT-RNR1 is in 4 panels

1 review

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Multiple variations within the MT-RNR1 gene have been associated with the development of hearing loss in patients who receive aminoglycoside antibiotics. Aminoglycosides are a class of antibiotics that includes drugs such as streptomycin, kanamycin, gentamycin and tobramycin, among others.

https://www.pharmgkb.org/gene/PA31274

The 1555A>G variation in the MT-RNR1 gene is strongly associated with the development of bilateral, sensorineural, nonsyndromic hearing loss following aminoglycoside antibiotic use: across 40 studies in either family pedigrees or groups of patients with hearing loss, 100% of those with the MT-RNR1 1555G variant who received an aminoglycoside antibiotic developed hearing loss. (PMID:9164619)
Sources: Expert list
Created: 25 Aug 2023, 5:59 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Deafness, mitochondrial, modifier of MIM# 580000

Created: 25 Aug 2023, 5:59 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Deafness, mitochondrial, modifier of MIM# 580000
OMIM
561000
Clinvar variants
Variants in MT-RNR1
Penetrance
None
Panels with this gene

History Filter Activity

28 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mt-rnr1 has been classified as Green List (High Evidence).

28 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mt-rnr1 has been classified as Green List (High Evidence).

25 Aug 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Claire Fryer-Smith (University of Melbourne)

gene: MT-RNR1 was added gene: MT-RNR1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Deafness, mitochondrial, modifier of MIM# 580000 Review for gene: MT-RNR1 was set to GREEN