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| Thoracic aortic aneurysm or dissection v1.92 | TGFBR1 | Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | TGFBR1 | Rebecca Whittington commented on gene: TGFBR1: 609192 Loeys-Dietz syndrome; well characterised gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | TGFBR1 | Rebecca Whittington reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | TGFBR1 |
Ellen McDonagh Source South West GLH was added to TGFBR1. Mode of inheritance for gene TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection v1.86 | TGFBR1 | Ellen McDonagh edited their review of gene: TGFBR1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.85 | TGFBR1 | Ellen McDonagh Source London South GLH was added to TGFBR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | TGFBR1 | James Eden reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16928994; Phenotypes: Loeys Dietz syndrome, type 1A (609192); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.83 | TGFBR1 |
Ellen McDonagh Source North West GLH was added to TGFBR1. Added phenotypes Loeys Dietz syndrome, type 1A (609192) for gene: TGFBR1 Publications for gene TGFBR1 were changed from to 16928994 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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