Genomics England
GMS Panels
Panels
Genes and Entities

MRM2

mitochondrial rRNA methyltransferase 2
OMIM: 606906
PanelMode of inheritanceDetails
2 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 17, OMIM:618567