Mitochondrial disorders
Gene: MT-TTEnsemblGeneIds (GRCh38): ENSG00000210195
EnsemblGeneIds (GRCh37): ENSG00000210195
OMIM: 590090, Gene2Phenotype
MT-TT is in 3 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:51 p.m. | Last Modified: 26 Sep 2024, 3:51 p.m.
Panel Version: 7.3
Mode of inheritance
MITOCHONDRIAL
Sarah Leigh (Genomics England Curator)
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, 4:45 p.m. | Last Modified: 18 Jun 2024, 4:45 p.m.
Panel Version: 6.8
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
MITOCHONDRIAL
Variants in this GENE are reported as part of current diagnostic practice
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- NHS GMS
- UKGTN
- 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
- OMIM
- 590090
- Clinvar variants
- Variants in MT-TT
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TT.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: MT-TT.
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)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: MT-TT.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MT-TT were changed from 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 to 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MT-TT were changed from mitochondrial disease; 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 to 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MT-TT were changed from to mitochondrial disease; 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MT-TT were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TT was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN