Monogenic hearing loss
Gene: MT-RNR1
Mode of inheritance
MITOCHONDRIAL
Mode of inheritance
MITOCHONDRIAL
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:17 p.m.
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:52 p.m.
Tag gene-checked tag was added to gene: MT-RNR1.
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
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MT-RNR1 was changed to MITOCHONDRIAL
MT-RNR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory
MT-RNR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory