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Mitochondrial disease

Gene: MT-TV

Green List (high evidence)

MT-TV (mitochondrially encoded tRNA valine)
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)

Green List (high evidence)

PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G
Created: 15 Jan 2025, 4:26 a.m. | Last Modified: 15 Jan 2025, 4:26 a.m.
Panel Version: 0.963
Sources: Expert list
Created: 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
mtDNA
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