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DDG2P

Gene: MT-TL1

Red List (low evidence)
MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MT-TL1-related mitochondrial disorder are limited, mitochondrial and undetermined (PMID:34075211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03132.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MT-TL1-associated mitochondrial disorder is limited. The allelic requirement and mutation consequence are mitochondrial and uncertain (PMID:34075211).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MITOCHONDRIAL

Phenotypes
MONDO:0044970; MT-TL1-related mitochondrial disorder; MT-TL1-associated mitochondrial disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MT-TL1 was changed from Other to None

29 Jul 2024, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-transfer tag was added to gene: MT-TL1.

4 Oct 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MT-TL1 was added gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34075211 Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder Mode of pathogenicity for gene: MT-TL1 was set to Other