| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.33 | SOD2 | Zornitza Stark Marked gene: SOD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.33 | SOD2 | Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.33 | SOD2 |
Zornitza Stark gene: SOD2 was added gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOD2 were set to 31494578 Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy Review for gene: SOD2 was set to RED Added comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578) Sources: Literature |
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