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| Cardiomyopathy_Paediatric v1.3 | ATP5PO | Zornitza Stark Tag new gene name tag was added to gene: ATP5PO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.3 | ATP5PO | Zornitza Stark Marked gene: ATP5PO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.3 | ATP5PO | Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.3 | ATP5PO | Zornitza Stark Classified gene: ATP5PO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.3 | ATP5PO | Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.2 | ATP5PO |
Zornitza Stark gene: ATP5PO was added gene: ATP5PO was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ATP5PO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5PO were set to 40913360; 35621276 Phenotypes for gene: ATP5PO were set to mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MONDO:0957255 Review for gene: ATP5PO was set to AMBER Added comment: PMID 40913360 and PMID 35621276 report 4 individuals from 3 families with homozygous splice variant c.87+3A>G in ATP5PO causing early‑onset hypertrophic cardiomyopathy, encephalopathy and hypotonia. The phenotype aligns with mitochondrial complex V (ATP synthase) deficiency, nuclear type 7. AMBER rating as manifestation only linked to this one specific variant; founder effect? Sources: Literature |
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