Mitochondrial disorders
Gene: MTFMTAs 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
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.
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
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
Tag watchlist was removed from gene: MTFMT.
Gene: mtfmt has been classified as Green List (High Evidence).
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
Publications for gene: MTFMT were set to
Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to MTFMT. Panel: Mitochondrial disorders
MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MTFMT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen