Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: MTFMT

Amber List (moderate evidence)

MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in at least eight unrelated cases of Combined oxidative phosphorylation deficiency 15 OMIM:614947.
Created: 27 Apr 2021, 3:29 p.m. | Last Modified: 27 Apr 2021, 3:29 p.m.
Panel Version: 2.139
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 27 Apr 2021, 3:24 p.m. | Last Modified: 27 Apr 2021, 3:24 p.m.
Panel Version: 2.139

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition.
Sources: Expert list
Created: 12 Sep 2020, 6:32 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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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
Tags
Q2_21_rating
OMIM
611766
Clinvar variants
Variants in MTFMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MTFMT.

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mtfmt has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MTFMT were set to 26060307; 24461907

27 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MTFMT was added gene: MTFMT was added to Ataxia and cerebellar anomalies - narrow panel. 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 gene: MTFMT was marked as current diagnostic