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  3. MTFMT
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Ataxia - paediatric

Gene: MTFMT

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

2 reviews

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, 6:19 a.m. | Last Modified: 15 May 2022, 6:19 a.m.
Panel Version: 0.14309

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, 6:19 a.m.
Last Modified: 15 May 2022, 6:19 a.m.
Panel version: Imported from Mendeliome panel version 0.14309

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition.
Sources: Expert list
Created: 17 Jun 2020, 12:51 a.m.

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: 17 Jun 2020, 12:51 a.m.

Panel version: 0.216

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 15 MIM#614947
  • Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
OMIM
611766
Clinvar variants
Variants in MTFMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTFMT was added gene: MTFMT was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 26060307; 24461907 Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Review for gene: MTFMT was set to GREEN