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| Mendeliome v0.7894 | SLC30A5 | Seb Lunke Classified gene: SLC30A5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7894 | SLC30A5 | Seb Lunke Gene: slc30a5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7893 | SLC30A5 | Seb Lunke Marked gene: SLC30A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7893 | SLC30A5 | Seb Lunke Gene: slc30a5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7891 | SLC30A5 |
Melanie Marty gene: SLC30A5 was added gene: SLC30A5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A5 were set to 33547425; 12095919 Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy Review for gene: SLC30A5 was set to AMBER Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. Sources: Literature |
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