Genomics England
GMS Panels
Panels
Genes and Entities

MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
MITOCHONDRIAL
Phenotypes
DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, AUDITORY NEUROPATHY, CARDIOMYOPATHY, RESTRICTIVE
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
MITOCHONDRIAL
Phenotypes
DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, CARDIOMYOPATHY, RESTRICTIVE, AUDITORY NEUROPATHY
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MITOCHONDRIAL
Phenotypes
hearing loss, Mitochondrial-Related Deafness, DEAFNESS, AMINOGLYCOSIDE-INDUCED, DEAFNESS, AUDITORY NEUROPATHY, INCLUDED, DEAFNESS, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, CARDIOMYOPATHY, RESTRICTIVE, INCLUDED