1. Panels
  2. Hereditary neuropathy or pain disorder
  3. MT-TV
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

Gene: MT-TV

No list
MT-TV (mitochondrially encoded tRNA valine)
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 8 panels

2 reviews

Christopher Record (UCL Queen Square Institute of Neurology)

Green List (high evidence)

Three published large families (PMID: 32715519; 38371303, 39468830,) with M1661A>G (Venezuela, China) plus internal cases of one family and a separate sporadic case with the same variant and identical phenotype (CMT plus UMN signs/spasticity) - at least 5 families total thus far.

PMID 39243325 is different nearby variant m.1636A > G with complex syndrome including CMT
Created: 29 Jun 2026, 1:37 p.m. | Last Modified: 29 Jun 2026, 1:37 p.m.
Panel Version: 8.9

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Peripheral neuropathy; spasticity

Publications

Created: 29 Jun 2026, 1:37 p.m.
Last Modified: 29 Jun 2026, 1:37 p.m.
Panel version: 8.9

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Described in 3 unrelated families with neuropathy and spasticity
Sources: Other
Created: 13 Apr 2026, 8:39 p.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
peripheral neuropathy; spasticity

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 13 Apr 2026, 8:39 p.m.

Panel version: 7.45

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
Phenotypes
  • peripheral neuropathy
  • spasticity
OMIM
590105
Clinvar variants
Variants in MT-TV
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

13 Apr 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Alexander Rossor (UCL Institute of Neurology)

gene: MT-TV was added gene: MT-TV was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Publications for gene: MT-TV were set to 32715519: 39468830: 38371303 Phenotypes for gene: MT-TV were set to peripheral neuropathy; spasticity Mode of pathogenicity for gene: MT-TV was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MT-TV was set to GREEN