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| Thoracic aortic aneurysm or dissection v1.92 | TGFB2 | Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | TGFB2 | Rebecca Whittington commented on gene: TGFB2: 614816 Loeys-Dietz syndrome; well characterised gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | SMAD2 | Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | TGFB2 | Rebecca Whittington reviewed gene: TGFB2: 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 | TGFB2 | Ellen McDonagh Source South West GLH was added to TGFB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.86 | TGFB2 | Ellen McDonagh edited their review of gene: TGFB2: 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 | TGFB2 | Ellen McDonagh Source London South GLH was added to TGFB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | TGFB2 | James Eden reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 4 (614816); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.83 | TGFB2 |
Ellen McDonagh Source North West GLH was added to TGFB2. Added phenotypes Loeys-Dietz syndrome 4 (614816) for gene: TGFB2 Publications for gene TGFB2 were changed from 22772368; 22772371 to 29392890 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection | TGFB2 | Louise Daugherty commented on TGFB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||