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  2. Pharmacogenomics_Paediatric
  3. MT-RNR1
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Pharmacogenomics_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

m.1555A>G  and m.1494C>T
Sources: Expert list
Created: 31 Jul 2020, 10:24 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Gentamicin toxicity

Created: 31 Jul 2020, 10:24 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gentamicin toxicity
Tags
mtDNA
OMIM
561000
Clinvar variants
Variants in MT-RNR1
Penetrance
None
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag mtDNA tag was added to gene: MT-RNR1.

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MT-RNR1 was added gene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Gentamicin toxicity Review for gene: MT-RNR1 was set to GREEN