Hereditary neuropathy or pain disorder
Gene: MT-TV

MT-TV (mitochondrially encoded tRNA valine)
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 7 panels

1 review

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

32715519: 39468830: 38371303

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

32715519: 39468830: 38371303

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

Hereditary neuropathy or pain disorder Gene: MT-TV