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 7.13
MITOCHONDRIAL
Phenotypes
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.9
MITOCHONDRIAL
Phenotypes
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.60
MITOCHONDRIAL
Phenotypes
maternally-inherited diabetes and deafness, MONDO:0010785
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.8
MITOCHONDRIAL
Phenotypes
Retinal dystrophy, HP:0000556, Macular dystrophy, HP:0007754