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| Spontaneous coronary artery dissection v0.39 | SMAD3 |
Ain Roesley changed review comment from: Missense variants within the MH2 domain have been suggested to exert dominant negative mechanism by disprupting the formation of homo-oligomers (PMID: 30661052) Loss-of-function proven for PTCs (PMID: 30661052) "Definitive" by ClinGen Aortopathy working group. Sources: Literature; to: PMID: 32897753 1x individual with SCAD, canonical splice variant PMID: 29650765 1x individual with SCAD, missense D258H absent in gnomad v4 PMID: 33125268 2x individuals with SCAD, 1x start loss and 1x fs PMID: 33190788 1x individual with another variant in MYH11 Sources: Literature |
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| Spontaneous coronary artery dissection v0.4 | SMAD3 | Ain Roesley Marked gene: SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.4 | SMAD3 | Ain Roesley Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.4 | SMAD3 | Ain Roesley Classified gene: SMAD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.4 | SMAD3 | Ain Roesley Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.3 | SMAD3 |
Ain Roesley gene: SMAD3 was added gene: SMAD3 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD3 were set to 21217753; 30661052; 30071989 Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795 Review for gene: SMAD3 was set to GREEN gene: SMAD3 was marked as current diagnostic Added comment: Missense variants within the MH2 domain have been suggested to exert dominant negative mechanism by disprupting the formation of homo-oligomers (PMID: 30661052) Loss-of-function proven for PTCs (PMID: 30661052) "Definitive" by ClinGen Aortopathy working group. Sources: Literature |
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