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Mendeliome

Gene: MT-TT

Green List (high evidence)

MT-TT (mitochondrially encoded tRNA threonine)
EnsemblGeneIds (GRCh38): ENSG00000210195
EnsemblGeneIds (GRCh37): ENSG00000210195
OMIM: 590090, Gene2Phenotype
MT-TT is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services)

Green List (high evidence)

MODERATE by ClinGen.

At least 10 probands reported with 5 unique variants. Age of onset in affected individuals varied from the neonatal period to more than 50 years. Clinical features in affected individuals included neonatal lactic acidosis; myoclonic epilepsy and ragged red fibers (MERRF); Leber Hereditary Optic Neuropathy (LHON); myopathy, seizures, migraines, pigmentary retinopathy, hearing loss, and diabetes. Brain imaging findings were variable. Muscle biopsies showed ragged red fibers and COX-deficient fibers. Lab investigations showed elevated lactate. Heteroplasmy levels were highest in muscle when multiple tissues were assessed, and ranged from 33% to homoplasmy in muscle.
Sources: Expert list
Created: 29 Sep 2025, 8:08 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Mitochondrial disease (MONDO:0044970), MT-TT-related

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TT-related
Tags
mtDNA
OMIM
590090
Clinvar variants
Variants in MT-TT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services)

Gene: mt-tt has been classified as Green List (High Evidence).

29 Sep 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services)

Gene: mt-tt has been classified as Green List (High Evidence).

29 Sep 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services)

gene: MT-TT was added gene: MT-TT was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TT. Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL Publications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913 Phenotypes for gene: MT-TT were set to Mitochondrial disease (MONDO:0044970), MT-TT-related Review for gene: MT-TT was set to GREEN