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Mendeliome

Gene: MT-TF

Green List (high evidence)

MT-TF (mitochondrially encoded tRNA phenylalanine)
EnsemblGeneIds (GRCh38): ENSG00000210049
EnsemblGeneIds (GRCh37): ENSG00000210049
OMIM: 590070, Gene2Phenotype
MT-TF is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE by ClinGen.

Over 30 individuals reported. Age of onset in affected individuals varied from childhood to >60 years. Clinical features in affected individuals included mitochondrial myopathy, MELAS, myoclonic epilepsy and ragged red fibers (MERRF), chronic external progressive ophthalmoplegia (CPEO), Gitelman syndrome, epilepsy, epilepsia partialis continua (EPC), chronic kidney disease, retinal dystrophy, sensorineural hearing loss, neuropathy, and neurologic/cognitive/psychiatric decline. Some affected individuals had normal brain imaging while others had cerebral, cerebellar, and/or brainstem atrophy.

Muscle biopsies showed ragged red fibers, COX-negative fibers, and decreased respiratory chain enzyme activities in some cases, although activities were normal in other individuals. Laboratory investigations showed variable lactate levels (normal to elevated in blood, cerebrospinal fluid, and/or urine) and elevated creatine kinase (CK).

Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed, and ranged from 58%-homoplasmic in muscle; 0-70% in hair, 0-homoplasmic in blood, fibroblast, and urine; and in one individual was 63% in a buccal sample.
Sources: Expert list
Created: 29 Sep 2025, 6:19 a.m.

Mode of inheritance
MITOCHONDRIAL

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

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TF-related
Tags
mtDNA
OMIM
590070
Clinvar variants
Variants in MT-TF
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-tf has been classified as Green List (High Evidence).

29 Sep 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services)

Phenotypes for gene: MT-TF were changed from Mitochondrial disease (MONDO:0044970), MT-TF-relatedn to Mitochondrial disease (MONDO:0044970), MT-TF-related

29 Sep 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services)

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

29 Sep 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services)

Tag mtDNA tag was added to gene: MT-TF.

29 Sep 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services)

gene: MT-TF was added gene: MT-TF was added to Mendeliome. Sources: Expert list Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334 Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-relatedn Review for gene: MT-TF was set to GREEN