Mitochondrial disorders
Gene: TSFMComment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panelCreated: 21 Mar 2017, 10:23 a.m.
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Created: 21 Mar 2017, 9:57 a.m.
Victorian Clinical Genetics Services was added to TSFM. Panel: Mitochondrial disorders
Mode of inheritance for TSFM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505
Publications for TSFM were set to 27604308;17033963;25037205
TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen