Mitochondrial disorders
Gene: GTPBP3

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

2 reviews

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.

Created: 2 Mar 2016, 12:22 p.m.

Panel version: 0.422

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert list

Phenotypes

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

OMIM

608536

Clinvar variants

Variants in GTPBP3

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GTPBP3. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4