Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 2

Likely inborn error of metabolism
Gene: MT-TT

MT-TT (mitochondrially encoded tRNA threonine)
EnsemblGeneIds (GRCh38): ENSG00000210195
EnsemblGeneIds (GRCh37): ENSG00000210195
OMIM: 590090, Gene2Phenotype
MT-TT is in 3 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.

Panel Version: 6.10

Mode of inheritance
MITOCHONDRIAL

Created: 26 Sep 2024, 3:37 p.m.
Last Modified: 26 Sep 2024, 3:37 p.m.
Panel version: 6.10

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least five MT-TT variants have been associated with human conditions, including: mitochondrial disease (MONDO:0044970); Leber optic atrophy (OMIM:535000); myoclonic epilepsy associated with ragged-red fibers (OMIM:545000); fatal infantile respiratory enzyme deficiency; inherited Diabetes Mellitus; adult onset mild mypathy and other mitochondrial diseases. The condition and severity appear to be dependent on the location of the variant whether the variant is homoplasmic or the percentage of heteroplasmy (PMID: 35808913; 32083134; 30236074; 28187756; 29760464; 22638997; 1645537).
MT-TT variants are not associated with a disease in OMIM or Gen2Phen, however, the ClinGen Mitochondrial Diseases Gene Curation Expert Panel has rated association between MT-TT variants and mitochondrial disease (MONDO:0044970) as Moderate.
Created: 18 Jun 2024, 4:44 p.m. | Last Modified: 18 Jun 2024, 4:44 p.m.

Panel Version: 5.7

Mode of inheritance
MITOCHONDRIAL

Created: 18 Jun 2024, 4:44 p.m.
Last Modified: 18 Jun 2024, 4:44 p.m.
Panel version: 5.7

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Mode of inheritance
MITOCHONDRIAL

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: From red to Amber...one reviewer is unsure though has checked current diagnostic. Variants of unknown significance reported in OMIM.
Created: 12 Feb 2016, 11:18 a.m.

Created: 12 Feb 2016, 11:18 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.243

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Green
NHS GMS

Phenotypes

mitochondrial disease, MONDO:0044970
Leber optic atrophy, OMIM:535000
myoclonic epilepsy associated with ragged-red fibers, OMIM:545000
fatal infantile respiratory enzyme deficiency
Inherited Diabetes Mellitus
adult onset mild myopathy

Tags

gene-checked

OMIM

590090

Clinvar variants

Variants in MT-TT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-TT.

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: MT-TT.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MT-TT. Source Expert Review Green was added to MT-TT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Jun 2024, Gel status: 2