Hypertrophic cardiomyopathy - teen and adult

Gene: MT-TI

Amber List (moderate evidence)

MT-TI (mitochondrially encoded tRNA isoleucine)
EnsemblGeneIds (GRCh38): ENSG00000210100
EnsemblGeneIds (GRCh37): ENSG00000210100
OMIM: 590045, Gene2Phenotype
MT-TI is in 4 panels

3 reviews

James Eden (Manchester)

I don't know

Listed on OMIM https://www.omim.org/entry/590045. Associated with HCM in homoplasmic state in Taylor JACC 2003, including functional analysis by northern blot.
Created: 4 Oct 2019, 7:47 a.m. | Last Modified: 4 Oct 2019, 7:47 a.m.
Panel Version: 1.77

Mode of inheritance
MITOCHONDRIAL

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: After discussion at the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber to await more evidence.
Created: 4 Mar 2019, 8:55 p.m.
Comment on list classification: New gene added to this panel after submission from the Oxford Medical Genetics Laboratory. Promoted from Red to Amber due to this new review and to raise in discussion with the NHSE GMS Cardiology specialist group.
Created: 17 Jan 2019, 5:16 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Evidence for the literature and the Oxford cohort (mansucript awaiting submission) that this variant might account for up to 1% of HCM.
Created: 17 Jan 2019, 5:06 p.m.

Mode of inheritance
MITOCHONDRIAL

Publications

  • Publications supporting role of this gene in HCM - PMID: 12767666
  • PMID: 30025578

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

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
OMIM
590045
Clinvar variants
Variants in MT-TI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mt-ti has been classified as Amber List (Moderate Evidence).

4 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mt-ti has been classified as Amber List (Moderate Evidence).

17 Jan 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: MT-TI were set to

17 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mt-ti has been classified as Amber List (Moderate Evidence).

17 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-TI was added gene: MT-TI was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Wessex and West Midlands GLH Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL