Paediatric or syndromic cardiomyopathy
Gene: MT-TVEnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 6 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in at least three unrelated patients with variants in MT-TV gene.
Expert opinion is sought from the Genomic Medicine Service on the inclusion of this gene on this panel with green raring in the next GMS update.Created: 27 Jun 2025, 10:41 a.m. | Last Modified: 3 Nov 2025, 5:36 p.m.
Panel Version: 7.92
PMID:15320572 - The m.1644G>A variant in MT-TV gene has been reported in a patient with severe hypertrophic cardiomyopathy associated with MELAS. The familial phenotype included hypertrophic cardiomyopathy and MELAS, clinically mild cardiac hypertrophy, and deafness.
PMID:21986556 - Two patients were identified with variants in MT-TV gene (one with m.1628C>T variant and the other with m.1644G>A variant) by a systematic search in a series of patients suspected of mitochondrial cardiomyopathy. The patient with m.1628C>T variant had mild hypertrophic cardiomyopathy as one of the clinical presentations, while the other patient had pronounced cardiomegaly and biventricular hypertrophy.
PMID:34298071 - This study reported 223 paediatric mitochondria disease patients with confirmed genetic diagnosis, of which one patient had m.1644G>A variant. The patient had hypertrophic cardiomyopathy.Created: 27 Jun 2025, 10:34 a.m. | Last Modified: 27 Jun 2025, 10:34 a.m.
Panel Version: 5.9
Mode of inheritance
MITOCHONDRIAL
Phenotypes
MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:0005045
Publications
Katherine Schon (University of Cambridge)
The m.1644G>A pathogenic variant has been associated with hypertrophic cardiomyopathy and c.1612C>T was also observed in an individual with hypertrophic cardiomyopathy (https://www.heartlungcirc.org/article/S1443-9506(22)00155-X/)Created: 24 Jun 2025, 10:19 a.m. | Last Modified: 24 Jun 2025, 10:19 a.m.
Panel Version: 5.3
Mode of inheritance
MITOCHONDRIAL
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- MELAS syndrome, MONDO:0010789
- hypertrophic cardiomyopathy, MONDO:000504
- Tags
- OMIM
- 590105
- Clinvar variants
- Variants in MT-TV
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_expert_review tag was added to gene: MT-TV.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mt-tv has been classified as Amber List (Moderate Evidence).
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ NHS_review was removed from gene: MT-TV.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_expert_review was removed from gene: MT-TV.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)gene: MT-TV was added gene: MT-TV was added to Paediatric or syndromic cardiomyopathy. Sources: Literature,Expert Review Amber Q2_25_ promote_green, Q2_25_expert_review, Q2_25_ NHS_review tags were added to gene: MT-TV. Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Publications for gene: MT-TV were set to 15320572; 21986556; 34298071 Phenotypes for gene: MT-TV were set to MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:000504 Mode of pathogenicity for gene: MT-TV was set to Other