Molecular autopsy
Gene: MTFMTMode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: mtfmt has been classified as Amber List (Moderate Evidence).
Source Expert Review Red was added to MTFMT. Mode of inheritance for gene MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: MTFMT Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders for gene: MTFMT
gene: MTFMT was added gene: MTFMT was added to Molecular autopsy. 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 Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders