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| Cardiomyopathy_Paediatric v0.192 | GTPBP3 | Zornitza Stark Marked gene: GTPBP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.192 | GTPBP3 | Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.192 | GTPBP3 | Zornitza Stark Classified gene: GTPBP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.192 | GTPBP3 | Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.191 | GTPBP3 |
Zornitza Stark 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 Added comment: 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 Review |
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