| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1510 | PRDM6 | Elena Savva Marked gene: PRDM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1510 | PRDM6 | Elena Savva Gene: prdm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1510 | PRDM6 | Elena Savva Classified gene: PRDM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1510 | PRDM6 | Elena Savva Gene: prdm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1509 | PRDM6 |
Elena Savva gene: PRDM6 was added gene: PRDM6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM6 were set to 38071433; 27716515; 27181681 Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 MIM#617039 Review for gene: PRDM6 was set to GREEN Added comment: Gene is established for patent ductus arteriosus. Only missense reported but supported by functional studies suggesting LOF. PMID: 38071433 - Two families (3 affected, 6 affected) with patent ductus arteriosus with/without additional coarctation of the aorta. Family 1 had a missense, family 2 had a PTC - both regarded as VUSs Additional papers PMID: 27716515;27181681 describe nonsyndromic patent ductus arteriosus for the first time Sources: Literature |
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