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Inborn errors of metabolism

Gene: GTPBP3

Green List (high evidence)

GTPBP3 (GTP binding protein 3, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000130299
EnsemblGeneIds (GRCh37): ENSG00000130299
OMIM: 608536, Gene2Phenotype
GTPBP3 is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment 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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 23 616198
OMIM
608536
Clinvar variants
Variants in GTPBP3
Penetrance
None
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gtpbp3 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)