Hypertrophic cardiomyopathy
Gene: MT-TI
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Publications for gene: MT-TI were set to
Gene: mt-ti has been classified as Amber List (Moderate Evidence).
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