Mitochondrial disorders
Gene: MT-TEEnsemblGeneIds (GRCh38): ENSG00000210194
EnsemblGeneIds (GRCh37): ENSG00000210194
OMIM: 590025, Gene2Phenotype
MT-TE is in 7 panels
3 reviews
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: Both reviewers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 1:13 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
- DIABETES AND DEAFNESS, MATERNALLY INHERITED
- MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
- Tags
- OMIM
- 590025
- Clinvar variants
- Variants in MT-TE
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TE.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TE.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-TE were set to MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TE was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN