Hypertrophic cardiomyopathy - teen and adult

Gene: MT-TL1

Red List (low evidence)

MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No phenotype
Created: 25 Mar 2019, 4:30 p.m.
No evidence
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Ellen McDonagh (Genomics England Curator)

This gene was suggested by Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan) to be added to this panel. Comments from Dr Atsuko Okazaki: "Among our ~2000 patients, certain numbers of hypertrophic cardiomyopathy patients have m.3243A>G mutation in MT-TL1 with high heteroplasty rate in the heart. Although reporting mitochondrial DNA mutations with their pathogenicity is always challenging due to the heteroplasty rate in affected organs, I think it might be one possibility to let clinicians know that m.3243A>G is a causative mutation for hypertrophic cardiomyopathy if mutation rate is high in the heart."
Sources: Expert Review
Created: 4 Dec 2018, 11:28 a.m.

Mode of inheritance
MITOCHONDRIAL

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MT-TL1.

4 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-TL1 was added gene: MT-TL1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Expert Review Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL