Genomics England
GMS Panels
Panels
Genes and Entities

MT-TL1

mitochondrially encoded tRNA leucine 1 (UUA/G)
OMIM: 590050
PanelMode of inheritanceDetails
4 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 6.14
MITOCHONDRIAL
Phenotypes
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.4
MITOCHONDRIAL
Phenotypes
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
MITOCHONDRIAL
Phenotypes
MIDD, DIABETES AND DEAFNESS, MATERNALLY INHERITED, Diabetes-Deafness Syndrome, Maternally Transmitted, MELAS syndrome, Maternally inherited diabetes
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
MITOCHONDRIAL
Phenotypes
Retinal dystrophy, HP:0000556, Macular dystrophy, HP:0007754