Mitochondrial disease
Gene: GTPBP3
Clinical presentation: early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem.
At least 12 unrelated individuals reported.Created: 30 Nov 2021, 2:53 a.m. | Last Modified: 30 Nov 2021, 2:53 a.m.
Panel Version: 0.667
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 23 MIM#616198
Publications
12 unrelated probandsCreated: 29 Nov 2021, 11:55 p.m. | Last Modified: 29 Nov 2021, 11:55 p.m.
Panel Version: 0.9949
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 23 MIM#616198
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: gtpbp3 has been classified as Green List (High Evidence).
Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Publications for gene: GTPBP3 were set to
Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: GTPBP3 was added gene: GTPBP3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: GTPBP3 was set to Unknown