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Hearing loss

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 7 panels

4 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:17 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:52 p.m.

Details

Mode of Inheritance
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
OMIM
561000
Clinvar variants
Variants in MT-RNR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-RNR1 were set to PMID:10220138; 10326749; 10521300; 10577941; 10788333; 10915767; 11079536; 11313749; 11388757; 12372057; 12624722; 12655418; 12920080; 12939650; 12955586; 14681830; 14699607; 14755216; 15286157; 15555598; 15637703; 15708009; 16152638; 1634105; 16375862; 16380089; 16458854; 16528519; 16631122; 16782057; 16826519; 17341440; 18261986; 18983818; 7550368; 7689389; 8817331; 9039999; 9391883; 9490575; 9632174; 9779807; 9887373; 9915970

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MT-RNR1 were set to hearing loss; Mitochondrial-Related Deafness; DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS; AUDITORY NEUROPATHY, INCLUDED; DEAFNESS; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE, INCLUDED

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MT-RNR1 was changed to MITOCHONDRIAL

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-RNR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-RNR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory