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| Cerebral vascular malformations v3.15 | COL5A1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: COL5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.15 | COL5A1 | Achchuthan Shanmugasundram Classified gene: COL5A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.15 | COL5A1 | Achchuthan Shanmugasundram Gene: col5a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.14 | COL5A1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of heterozygous COL5A1 variants with this panel. However, there are only two cases reported with compound heterozygous variants. Hence the MOI should be set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.14 | COL5A1 | Achchuthan Shanmugasundram Mode of inheritance for gene: COL5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.13 | COL5A1 | Achchuthan Shanmugasundram Phenotypes for gene: COL5A1 were changed from Fibromuscular dysplasia, multifocal to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000; Fibromuscular dysplasia, multifocal, OMIM:619329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.12 | COL5A1 | Achchuthan Shanmugasundram Publications for gene: COL5A1 were set to PMID: 32938213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.11 | COL5A1 | Achchuthan Shanmugasundram edited their review of gene: COL5A1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.11 | COL5A1 | Achchuthan Shanmugasundram edited their review of gene: COL5A1: Changed phenotypes to: Ehlers-Danlos syndrome, classic type, 1, OMIM:130000, Fibromuscular dysplasia, multifocal, OMIM:619329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.11 | COL5A1 |
Achchuthan Shanmugasundram changed review comment from: PMID:17053184 - Of 15 patients from seven families with spontaneous cervical artery dissections (CAD) recruited in this study, two patients from a family carried a rare variant in COL5A1 (p.Asp192Asn). One of them also carried a rare variant in COL5A2. PMID:31903434 - Among 43 patients with cervical artery dissection (CeAD) analysed in this study, one patient had classic Ehlers Danlos syndrome due to two different missense variants in COL5A1 (p.Arg65Trp and p.Val172Phe), while another patient had missense variants in COL5A2 (p.Pro1103Leu) and COL5A1 (p.Thr1757Met). PMID:32938213 - Four unrelated individuals were reported with the same heterozygous variant in COL5A1 (p.Gly514Ser) and they presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. The existence of a common haplotype among all four probands suggest founder effect. PMID:33189937 - A 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS was identified with two COL5A1 missense variants in trans configuration (p.Gly530Ser and p.Pro1379Ser). PMID:35911880; to: PMID:17053184 - Of 15 patients from seven families with spontaneous cervical artery dissections (CAD) recruited in this study, two patients from a family carried a rare variant in COL5A1 (p.Asp192Asn). One of them also carried a rare variant in COL5A2. PMID:31903434 - Among 43 patients with cervical artery dissection (CeAD) analysed in this study, one patient had classic Ehlers Danlos syndrome due to two different missense variants in COL5A1 (p.Arg65Trp and p.Val172Phe), while another patient had missense variants in COL5A2 (p.Pro1103Leu) and COL5A1 (p.Thr1757Met). PMID:32938213 - Four unrelated individuals were reported with the same heterozygous variant in COL5A1 (p.Gly514Ser) and they presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. The existence of a common haplotype among all four probands suggest founder effect. PMID:33189937 - A 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS was identified with two COL5A1 missense variants in trans configuration (p.Gly530Ser and p.Pro1379Ser). PMID:35911880 - A female was reported with postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. She was identified with a heterozygous COL5A1 gene variant (p.Asp1648Gly). This gene has been associated with relevant phenotypes in OMIM and Gene2Phenotype. |
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| Cerebral vascular malformations v3.11 | COL5A1 | Achchuthan Shanmugasundram reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17053184, 31903434, 32938213, 33189937, 35911880; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.9 | COL5A1 |
Dmitrijs Rots changed review comment from: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. Enough evidence for green. Other mFMD included in the panel. Sources: Radboud University Medical Center, Nijmegen; to: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. Enough evidence for green. Other mFMD included in the panel. Sources: Radboud University Medical Center, Nijmegen |
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| Cerebral vascular malformations v3.9 | COL5A1 |
Dmitrijs Rots gene: COL5A1 was added gene: COL5A1 was added to Cerebral vascular malformations. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL5A1 were set to PMID: 32938213 Phenotypes for gene: COL5A1 were set to Fibromuscular dysplasia, multifocal Mode of pathogenicity for gene: COL5A1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: COL5A1 was set to GREEN Added comment: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. Enough evidence for green. Other mFMD included in the panel. Sources: Radboud University Medical Center, Nijmegen |
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