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Hypertrophic cardiomyopathy_HCM

Gene: MT-TI

Green List (high evidence)
MT-TI (mitochondrially encoded tRNA isoleucine)
EnsemblGeneIds (GRCh38): ENSG00000210100
EnsemblGeneIds (GRCh37): ENSG00000210100
OMIM: 590045, Gene2Phenotype
MT-TI is in 3 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods.
Created: 29 Jul 2020, 6:46 a.m. | Last Modified: 29 Jul 2020, 6:46 a.m.
Panel Version: 0.121
Created: 29 Jul 2020, 6:46 a.m.
Last Modified: 29 Jul 2020, 6:46 a.m.
Panel version: 0.121

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family.

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature
Created: 29 Jul 2020, 2:45 a.m. | Last Modified: 29 Jul 2020, 3 a.m.
Panel Version: 0.89

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Hypertrophic cardiomyopathy

Publications

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

Created: 29 Jul 2020, 2:45 a.m.
Last Modified: 29 Jul 2020, 3 a.m.
Panel version: 0.89

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
mtDNA
OMIM
590045
Clinvar variants
Variants in MT-TI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: mt-ti has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: mt-ti has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 0

Added Tag

Seb Lunke (Victorian Clinical Genetics Services)

Tag mtDNA tag was added to gene: MT-TI.

29 Jul 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: MT-TI was added gene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL Publications for gene: MT-TI were set to 12767666; 30025578; 29481798 Phenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy Review for gene: MT-TI was set to AMBER gene: MT-TI was marked as current diagnostic