DDG2P
Gene: MTFMT

MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MTFMT-related mitochondrial disease with regression and lactic acidosis is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23499752;30911575;21907147;24461907;32133637).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MTFMT-related mitochondrial disease with regression and lactic acidosis

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MTFMT-related mitochondrial disease with regression and lactic acidosis

OMIM

611766

Clinvar variants

Variants in MTFMT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MTFMT was added gene: MTFMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 30911575; 23499752; 21907147; 24461907; 32133637 Phenotypes for gene: MTFMT were set to MTFMT-related mitochondrial disease with regression and lactic acidosis

DDG2P Gene: MTFMT