MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000
PanelMode of inheritanceDetails
3 panels
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MITOCHONDRIAL
Phenotypes
hearing loss, Mitochondrial-Related Deafness, DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, AUDITORY NEUROPATHY, INCLUDED, DEAFNESS, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, CARDIOMYOPATHY, RESTRICTIVE, INCLUDED
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MITOCHONDRIAL
Phenotypes
DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, AUDITORY NEUROPATHY, CARDIOMYOPATHY, RESTRICTIVE
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes
DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, CARDIOMYOPATHY, RESTRICTIVE, AUDITORY NEUROPATHY