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Mendeliome

Gene: MT-TG

Green List (high evidence)

MT-TG (mitochondrially encoded tRNA glycine)
EnsemblGeneIds (GRCh38): ENSG00000210164
EnsemblGeneIds (GRCh37): ENSG00000210164
OMIM: 590035, Gene2Phenotype
MT-TG is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services)

Green List (high evidence)

MODERATE by ClinGen.

Four variants reported in at least 6 individuals. Age of onset in affected individuals varied from early in life to the 20s. Clinical features included hypertrophic cardiomyopathy, myopathy, peripheral neuropathy, exercise intolerance, headache, seizures, ataxia, dystonic posturing, optic atrophy, retinal dystrophy, cataracts, and hearing loss. Progressive atrophy and bilateral basal ganglia calcifications were seen on brain imaging.

Tissue biopsies identified ragged red fibers and decreased COX histochemical activity in muscle. Lab values showed increased blood lactate and increased creatine kinase. Decreased activities of complexes I, III, and IV were observed in biopsied muscle.

Heteroplasmy levels of the variants in affected individuals ranged from 88-92% in muscle, 40-56% in urine, undetectable to 32% in blood, 27% in buccal samples, and was undetectable when assessed in fibroblasts. Single fiber testing and cybrid analysis further supported variant pathogenicity. This gene-disease relationship is also supported by known biochemical function and functional alterations in patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TG; PMID: 10090480).
Sources: Expert list
Created: 29 Sep 2025, 6:25 a.m.

Mode of inheritance
MITOCHONDRIAL

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

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TG-related
Tags
mtDNA
OMIM
590035
Clinvar variants
Variants in MT-TG
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-tg 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-tg 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-TG.

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-TG was added gene: MT-TG was added to Mendeliome. Sources: Expert list Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480 Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related Review for gene: MT-TG was set to GREEN