Inherited white matter disorders
Gene: MTFMT

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

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 15; 614947; 22499348; 23499752

Publications

Created: 6 Oct 2016, 12:32 p.m.

Panel version: 0.485

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Combined oxidative phosphorylation deficiency 15 OMIM:614947
combined oxidative phosphorylation defect type 15 MONDO:0013987
Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248
mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631

OMIM

611766

Clinvar variants

Variants in MTFMT

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; 614947; 22499348; 23499752 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631

6 Oct 2016, Gel status: 4