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| Spontaneous coronary artery dissection v0.32 | COL5A1 | Ain Roesley edited their review of gene: COL5A1: Changed publications: 32938213, 35234813; Changed phenotypes: Ehlers-Danlos syndrome, classic type, 1 MIM#130000, Fibromuscular dysplasia, multifocal MIM#619329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | COL5A1 |
Ain Roesley changed review comment from: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity. (https://www.ncbi.nlm.nih.gov/books/NBK1244/) Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur. 4 unrelated individuals reported, but all had the same variant, p.Gly514Ser, and haplotype analysis was consistent with founder effect. Further rare missense variants were identified in a cohort, although limited information available. Sources: Literature; to: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity. (https://www.ncbi.nlm.nih.gov/books/NBK1244/) SCAD individuals with variants in COL5A1 have been reported PMID: 35234813 Sources: Literature |
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| Spontaneous coronary artery dissection v0.16 | COL5A1 | Ain Roesley Marked gene: COL5A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.16 | COL5A1 | Ain Roesley Gene: col5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.16 | COL5A1 | Ain Roesley Classified gene: COL5A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.16 | COL5A1 | Ain Roesley Gene: col5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.15 | COL5A1 |
Ain Roesley gene: COL5A1 was added gene: COL5A1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL5A1 were set to 32938213 Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 1 MIM#130000; Fibromuscular dysplasia, multifocal MIM#619329 Review for gene: COL5A1 was set to GREEN gene: COL5A1 was marked as current diagnostic Added comment: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity. (https://www.ncbi.nlm.nih.gov/books/NBK1244/) Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur. 4 unrelated individuals reported, but all had the same variant, p.Gly514Ser, and haplotype analysis was consistent with founder effect. Further rare missense variants were identified in a cohort, although limited information available. Sources: Literature |
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