| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Spontaneous coronary artery dissection v0.53 | PKD1 | Stephanie Hesselson reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650765,33125268,26971055,24303518,19557720,9719186,18992981,26069747,20634758,33969096,28915698; Phenotypes: CORONARY ARTERY DISSECTION SPONTANEOUS MIM#122455, POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE, PKD1 MIM#173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.31 | PKD1 | Ain Roesley Publications for gene: PKD1 were set to 35630097; 26798684; 26971055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.30 | PKD1 | Ain Roesley edited their review of gene: PKD1: Changed publications: 35630097, 26798684, 26971055, 29650765; Changed phenotypes: Polycystic kidney disease 1 MIM#173900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.30 | PKD1 |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" Multiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055) PMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants Sources: Literature; to: PMID: 37979122; listed as "likely monogenic disease effect" Multiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055) PMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants Sources: Literature PMID: 29650765; reports 1x SCAD + ADPKD Individual with Cys37Tyr which is absent in gnomad and clinvar |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.26 | PKD1 | Ain Roesley Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.26 | PKD1 | Ain Roesley Gene: pkd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.26 | PKD1 |
Ain Roesley gene: PKD1 was added gene: PKD1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD1 were set to 35630097; 26798684; 26971055 Phenotypes for gene: PKD1 were set to Polycystic kidney disease 1 MIM#173900 Review for gene: PKD1 was set to RED gene: PKD1 was marked as current diagnostic Added comment: PMID: 37979122; listed as "likely monogenic disease effect" Multiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055) PMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||