Likely inborn error of metabolism - targeted testing not possible
Gene: GTPBP3Comment on phenotypes: Mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy;Multiple respiratory chain complex deficiencies (disorders of protein synthesis)Created: 19 Sep 2019, 3:41 p.m. | Last Modified: 19 Sep 2019, 3:41 p.m.
Panel Version: 1.269
Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).Created: 19 Sep 2019, 3:40 p.m. | Last Modified: 19 Sep 2019, 3:40 p.m.
Panel Version: 1.268
Comment 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.
Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 23 616198
Gene: gtpbp3 has been classified as Green List (High Evidence).
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: GTPBP3
gene: GTPBP3 was added gene: GTPBP3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)