1. Panels
  2. Fetal anomalies
  3. MT-TE
Genes in panel
Prev Next

Fetal anomalies

Gene: MT-TE

Amber List (moderate evidence)
MT-TE (mitochondrially encoded tRNA glutamic acid)
EnsemblGeneIds (GRCh38): ENSG00000210194
EnsemblGeneIds (GRCh37): ENSG00000210194
OMIM: 590025, Gene2Phenotype
MT-TE is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Green on 3 other panels. On mitochondrial genome so would need WGS to call with adapted pipeline. PMID:17161635 - 2 siblings tested, 1 presetned with hydrops and dilated cardiomyopathy. Usually presents with myopathy. 5 other non-tested pregnancies - 3 miscarriages, 1 death post 6 months gestation and 1 other neonatal death in family. Only 1 surviving child (who did not present with hydrops but is affected). Suggest amber as just one family. Note that mitochondrial variants and not often analysed prenatally.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Mitochondrial tRNA deficiency

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Mitochondrial tRNA deficiency
OMIM
590025
Clinvar variants
Variants in MT-TE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MT-TE was added gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL Publications for gene: MT-TE were set to 33082562; 17161635 Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency