MT-TL1
Chr mitochondriamitochondrially encoded tRNA-Leu (UUA/G) 1
- Aliases:
- TRNL1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Diabetes with additional phenotypes suggestive of a monogenic aetiology
MITOCHONDRIALFamilial diabetes
MITOCHONDRIALHereditary neuropathy
MITOCHONDRIALLikely inborn error of metabolism
MITOCHONDRIALMitochondrial disorders
MITOCHONDRIALMonogenic diabetes
MITOCHONDRIALRetinal disorders
MITOCHONDRIALUndiagnosed metabolic disorders
MITOCHONDRIAL
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Disease associations (Open Targets)
MELAS
0.56maternally-inherited diabetes and deafness
0.52MELAS syndrome
0.46hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
0.38mitochondrial disease
0.37inborn mitochondrial metabolism disorder
0.37Macular dystrophy
0.37MERRF
0.37inherited retinal dystrophy
0.37Retinal dystrophy
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.