Mitochondrial disease
Gene: MT-TV
MT-TV (mitochondrially encoded tRNA valine)
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 1 panel
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > GCreated: 15 Jan 2025, 4:26 a.m. | Last Modified: 15 Jan 2025, 4:26 a.m.
Panel Version: 0.963
Sources: Expert listCreated: 19 Apr 2020, 4:16 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Ataxia; Seizures; Deafness; Spastic paraplegia
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ataxia
- Seizures
- Deafness
- Tags
- OMIM
- 590105
- Clinvar variants
- Variants in MT-TV
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Apr 2020, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag mtDNA tag was added to gene: MT-TV.
19 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tv has been classified as Green List (High Evidence).
19 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tv has been classified as Green List (High Evidence).
19 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MT-TV was added gene: MT-TV was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness Review for gene: MT-TV was set to GREEN