Mitochondrial disorders
Gene: GTPBP3Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:23 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy.
Created: 2 Mar 2016, 12:22 p.m.
Victorian Clinical Genetics Services was added to GTPBP3. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for GTPBP3 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Combined oxidative phosphorylation deficiency 23
Phenotypes for GTPBP3 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy
Mode of inheritance for GTPBP3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GTPBP3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list