Tubulointerstitial kidney disease

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 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating this gene as green due to expert review and because there are more than 3 cases of individuals with variants in this gene and tubulointerstitial kidney disease.
Created: 20 Mar 2019, 5:06 p.m.
No association with any phenotype for MT-TF in OMIM or Gene2Phenotype.

PMID: 28267784 - Connor et al 2017 - a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T) and show that this substitution alters transcription, and reduced levels of mitochondrial tRNAPhe. They also identified a homoplasmic substitution, in the anticodon stem of mt tRNA Phe (m.616T>C) in two further pedigrees with unexplained tubulointerstitial kidney disease.

PMID: 11231339 - Tzen et al 2001 - 2 patients from the same family, both with tubulointerstitial nephritis and an A608G transition in the region that codes for the tRNA for phenylalanine (tRNAPhe). However, the leukocyte mtDNA of the mother also carries the same mutation. She appears to be a healthy carrier and is not known to have any renal disease. This variant not found in 97 controls and is evolutionary conserved.

PMID: 20142618 - Zsurka et al 2010 - 2 patients from different families, both with severe epilepsy. Both had point mutations at position 616 in the mitochondrial tRNAPhe (MT-TF) gene; a homoplasmic T to C transition was detected in patient 1 and a T to G transversion in patient 2. Patient 1 also had chronic renal insufficiency. A maternal cousin of the patient also had epileptic seizures starting in early childhood and died of kidney failure.

PMID: 23135609 - D'Aco et al 2013 - 16-month-old girl with failure-to-thrive, developmental regression, persistent lactic acidosis, hypotonia, gastrointestinal dysmotility, adrenal insufficiency, and hematologic abnormalities developed hypertension and renal impairment with chronic tubulointerstitial fibrosis, progressing to renal failure with the need for peritoneal dialysis. Evaluation of her muscle and blood led to the identification of a mutation of the mitochondrial tRNA for phenylalanine, m.586 G > A.
Created: 20 Mar 2019, 4:41 p.m.

Daniel Gale (UCL)

Green List (high evidence)

Sources: Literature
Created: 6 Mar 2019, 1:15 p.m.

Mode of inheritance

Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal insufficiency; renal failure


Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
  • Expert Review Green
  • Tubulointerstitial kidney disease
  • tubulointerstitial nephritis
  • renal insufficiency
  • renal failure
Clinvar variants
Variants in MT-TF
Panels with this gene

History Filter Activity

20 Mar 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609

20 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 0

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

Daniel Gale (UCL)

gene: MT-TF was added gene: MT-TF was added to Tubulointerstitial kidney disease. Sources: Literature Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609 Phenotypes for gene: MT-TF were set to Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal insufficiency; renal failure Penetrance for gene: MT-TF were set to Complete Review for gene: MT-TF was set to GREEN gene: MT-TF was marked as current diagnostic