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Mitochondrial disease
Gene: MTFMT

MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported, likely a spectrum of mitochondrial disease rather than distinct disorders.
Created: 15 May 2022, 6:20 a.m. | Last Modified: 15 May 2022, 6:20 a.m.

Panel Version: 0.802

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248

Publications

Created: 15 May 2022, 6:20 a.m.
Last Modified: 15 May 2022, 6:20 a.m.
Panel version: 0.802

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 15, MIM# 614947
Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248

OMIM

Clinvar variants

Variants in MTFMT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtfmt has been classified as Green List (High Evidence).

15 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248

15 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTFMT were set to

15 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

15 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTFMT was added gene: MTFMT was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MTFMT was set to Unknown