Likely inborn error of metabolism - targeted testing not possible
Gene: MTFMTComment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)).Created: 19 Aug 2019, 11:47 a.m. | Last Modified: 19 Aug 2019, 11:47 a.m.
Panel Version: 1.186
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 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
Publications for gene: MTFMT were set to 21907147; 27564080; 23499752; 24461907
Phenotypes for gene: MTFMT were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 15, 614947; Inherited white matter disorders; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial complex I deficiency, nuclear type 27 618248 to Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Source Expert Review Green was added to MTFMT. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to MTFMT. Source London North GLH was added to MTFMT.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: MTFMT
gene: MTFMT was added gene: MTFMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 27604308 Phenotypes for gene: MTFMT were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders