| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Spontaneous coronary artery dissection v0.56 | COL4A1 | Zornitza Stark Marked gene: COL4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.56 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.56 | COL4A1 | Zornitza Stark Phenotypes for gene: COL4A1 were changed from CORONARY ARTERY DISSECTION, SPONTANEOUS MIM#122455 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.55 | COL4A1 | Zornitza Stark Classified gene: COL4A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.55 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.54 | COL4A1 | Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.54 | COL4A1 |
Stephanie Hesselson gene: COL4A1 was added gene: COL4A1 was added to Spontaneous coronary artery dissection. Sources: Other Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to PMID: 35583931, 35234813, 37248441 Phenotypes for gene: COL4A1 were set to CORONARY ARTERY DISSECTION, SPONTANEOUS MIM#122455 Penetrance for gene: COL4A1 were set to unknown Review for gene: COL4A1 was set to GREEN Added comment: It is possible that rare and common variants in COL4A1 contribute to SCAD risk. 5 individuals with SCAD have been found to carry a LP variant: PMID: 35234813 reports 3x SCAD participants with a LP variant in COL4A1 p.Gly1484Arg, p.Gly495Arg, and p.Gly160Asp PMID 35583931 reports 2x SCAD participants with LP variants in COL4A1 p.Gly1198Arg and p.Ala1626Gly In a meta-GWAS for SCAD, the COL4A1/COL4A2 locus accounted for the second largest proportion of heritability for SCAD in the dataset. It contained two independent GWAS signals at this locus. (PMID 37248441) Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||