Congenital myopathy
Gene: MT-TP

MT-TP (mitochondrially encoded tRNA proline)
EnsemblGeneIds (GRCh38): ENSG00000210196
EnsemblGeneIds (GRCh37): ENSG00000210196
OMIM: 590075, Gene2Phenotype
MT-TP is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:7689388 - A seven-year-old female patient was reported with pure myopathy and with m.15990C>T pathogenic variant in MT-TP gene.

PMID:32305257 - A 34-year-old female patient was reported with progressive external ophthalmoplegia accompanied by exercise intolerance but neither fixed weakness nor multisystemic involvement. She was identified with the same m.15990C>T variant.

In summary, no patients presented with myopathy in infancy, but one had myopathy since childhood.
Created: 29 Jun 2025, 11:37 a.m. | Last Modified: 29 Jun 2025, 11:37 a.m.

Panel Version: 6.31

Mode of inheritance
MITOCHONDRIAL

Phenotypes
inborn mitochondrial myopathy, MONDO:0009637

Publications

Created: 29 Jun 2025, 11:37 a.m.
Last Modified: 29 Jun 2025, 11:37 a.m.
Panel version: 6.31

Katherine Schon (University of Cambridge)

I don't know

The m.15990C>T pathogenic variant has been reported two patients with congenital myopathy. Amber - two families.
Created: 24 Jun 2025, 10:53 a.m. | Last Modified: 24 Jun 2025, 10:53 a.m.

Panel Version: 6.10

Mode of inheritance
MITOCHONDRIAL

Publications

Mode of pathogenicity
Other

Created: 24 Jun 2025, 10:53 a.m.
Last Modified: 24 Jun 2025, 10:53 a.m.
Panel version: 6.10

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Amber
Literature

Phenotypes

inborn mitochondrial myopathy, MONDO:0009637

Tags

locus-type-rna-transfer

OMIM

590075

Clinvar variants

Variants in MT-TP

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene