Mitochondrial disorders
Gene: MTFMTEnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels
5 reviews
Louise Daugherty (Genomics England Curator)
As a result of watchlist tag audit the watchlist tag was removed from MTFMT this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 4:37 p.m. | Last Modified: 13 Jan 2020, 4:37 p.m.
Panel Version: 2.3
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis)Created: 27 Apr 2021, 3:21 p.m. | Last Modified: 27 Apr 2021, 3:21 p.m.
Panel Version: 2.32
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported.Created: 16 Apr 2019, 3:20 p.m.
Comment on phenotypes: Mitochondrial complex I deficiency, nuclear type 27 618248Created: 16 Apr 2019, 3:14 p.m.
Zornitza Stark (Australian Genomics)
Agree with other reviewers, ample evidence for Green, multiple affected individuals from unrelated families reported in the literature.Created: 30 Aug 2018, 11:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 15, MIM#614947
Publications
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MTFMT were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 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
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: MTFMT.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mtfmt has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MTFMT were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MTFMT were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MTFMT. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen