| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Spontaneous coronary artery dissection v0.46 | PTGIR | Ain Roesley Publications for gene: PTGIR were set to 32531060; 37979122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.45 | PTGIR |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" PMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. However, this gene is NOT LoF constraint in gnomad v4. 200 hets for an NMD variant Sources: Literature; to: PMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. However, this gene is NOT LoF constraint in gnomad v4. 200 hets for an NMD variant All other papers cited PMID: 32531060 Sources: Literature |
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| Spontaneous coronary artery dissection v0.27 | PTGIR | Ain Roesley Marked gene: PTGIR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.27 | PTGIR | Ain Roesley Gene: ptgir has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.27 | PTGIR |
Ain Roesley gene: PTGIR was added gene: PTGIR was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: PTGIR was set to Unknown Publications for gene: PTGIR were set to 32531060; 37979122 Review for gene: PTGIR was set to RED gene: PTGIR was marked as current diagnostic Added comment: PMID: 37979122; listed as "likely monogenic disease effect" PMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. However, this gene is NOT LoF constraint in gnomad v4. 200 hets for an NMD variant Sources: Literature |
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