Cardiomyopathy_Paediatric
Gene: GTPBP3EnsemblGeneIds (GRCh38): ENSG00000130299
EnsemblGeneIds (GRCh37): ENSG00000130299
OMIM: 608536, Gene2Phenotype
GTPBP3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert ReviewCreated: 10 May 2024, 5:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 23 MIM#616198
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gtpbp3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gtpbp3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GTPBP3 was added gene: GTPBP3 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP3 were set to 34276756; 25434004 Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23 MIM#616198 Review for gene: GTPBP3 was set to GREEN