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Gene: GTPBP3

GTPBP3 (GTP binding protein 3, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000130299
EnsemblGeneIds (GRCh37): ENSG00000130299
OMIM: 608536, Gene2Phenotype
GTPBP3 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Clinical presentation: early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Can have perinatal presentation with cardiomyopathy reported. Laboratory investigations are consistent with a failure 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. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade.

At least 12 unrelated probands reported.
Created: 7 Nov 2024, 12:08 a.m. | Last Modified: 7 Nov 2024, 12:08 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 23 MIM#616198

Publications

Created: 7 Nov 2024, 12:08 a.m.
Last Modified: 7 Nov 2024, 12:08 a.m.
Panel version: 1.546

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Combined oxidative phosphorylation deficiency 23, 616198 (3)

OMIM

608536

Clinvar variants

Variants in GTPBP3

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GTPBP3 was added gene: GTPBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 616198 (3)

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