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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
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)
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