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Thoracic aortic aneurysm or dissection v1.104 | BGN | Ivone Leong Publications for gene: BGN were set to 27632686 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.96 | BGN | Ivone Leong commented on gene: BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.94 | BGN | Ivone Leong Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.93 | BGN | James Eden reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686, 17502576; Phenotypes: Meester-Loeys syndrome, 300989, Spondyloepimetaphyseal dysplasia, X-linked, 300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.90 | BGN | Rebecca Whittington commented on gene: BGN: 300989 Meester-Loeys syndrome; phenotype includes aortic aneurysm and dissection as well as rare pulmonory and cerebral artery aneurysm in addition to other syndromic connective tissue phenotypes; female carriers variable phenotype from unaffected to fatal aortic dissection (OMIM). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.89 | BGN | Rebecca Whittington commented on gene: BGN: Meester et al 2017 Genet Med 19:386 PMID:27632686 report one nonsense, two missense and two large deletions affecting multiple exons of BGN but no additional genes. Nonsense variant c.5G>A, p.Trp2* with no gnomAD freq, seg in two affected family members and 2 ClinVar submissions as pathogenic. Missense variants c.908A>C, p.Gln303Pro and c.238G>A,p.Gly80Ser both with no gnomAD freq and 2 ClinVar submissions as pathogenic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.88 | BGN | Rebecca Whittington reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.87 | BGN |
Ellen McDonagh Source South West GLH was added to BGN. Mode of inheritance for gene BGN was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Thoracic aortic aneurysm or dissection v1.86 | BGN | Ellen McDonagh reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.85 | BGN |
Ellen McDonagh Source London South GLH was added to BGN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger marked BGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger classified BGN as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger commented on BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger commented on BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger added BGN to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection | BGN | Rebecca Foulger reviewed BGN |