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  3. MT-TI
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Cardiomyopathy_Paediatric

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 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: Imported from Hypertrophic cardiomyopathy_HCM 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: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert Review Amber
  • NHS GMS
OMIM
590045
Clinvar variants
Variants in MT-TI
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MT-TI was added gene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL