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Mitochondrial disease

Gene: GTPBP3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 30 Nov 2021, 2:53 a.m.
Last Modified: 30 Nov 2021, 2:53 a.m.
Panel version: 0.667

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

12 unrelated probands
Created: 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

Created: 29 Nov 2021, 11:55 p.m.
Last Modified: 29 Nov 2021, 11:55 p.m.
Panel version: Imported from Mendeliome panel version 0.9949

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, MIM#616198
OMIM
608536
Clinvar variants
Variants in GTPBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198

30 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GTPBP3 were set to

30 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

30 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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