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Thoracic aortic aneurysm or dissection v1.90 MFAP5 Rebecca Whittington commented on gene: MFAP5: 616166 Aortic aneurysm, familial thoracic 9 - syndromic - also pectus and arachnodactyly
Thoracic aortic aneurysm or dissection v1.89 MFAP5 Rebecca Whittington commented on gene: MFAP5: Barbier et al 2014 Am J Hum Genet 95:736 PMID:25434006 describe one missense variant c.62G>T (p.Trp21Leu) (MAF 0.0036% 10 alleles - quite high) and one nonsense variant (in final exon) c.472C>T (p.Arg158*) (MAF 0.0045% 11 alleles) in patients with syndromic/non-syndromic thoracic aortic aneurysm and dissections and no previous genetic diagnoisis. The nonsense variant segregates in 4 affected family members (also present in one unaffected 83 year-old and two family members with ambiguous phenotypes - incomplete penetrance?) and the missense variant in two affected family members (plus one younger family member with ambigous phenotype). Functional studies on aortic tissue (following surgery) from the missense variant showed disorganisation of the tunica media with loss of smooth muscle cells and showed enhanced TGF-b signaling in patient compared to healthy aorta. Schubert et al 2016 Am J Med Genet A 170A:1288 PMID:26854089 indentified an additional MFAP5 variant in a TAA cohort - patient also as an MYLK variant. Both missense and classified as VUS. MFAP5 variant is c.341G>A p.Arg114Gln (MAF ASJ 0.34% (56 alleles)) and has stronger supporting BI than the MYLK variant.
Thoracic aortic aneurysm or dissection v1.88 MFAP5 Rebecca Whittington reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 MFAP5 Ellen McDonagh Source South West GLH was added to MFAP5.
Mode of inheritance for gene MFAP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.86 MFAP5 Ellen McDonagh reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.85 MFAP5 Ellen McDonagh Source London South GLH was added to MFAP5.
Thoracic aortic aneurysm or dissection v1.82 MFAP5 Anna de Burca reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26854089; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection MFAP5 Rebecca Foulger added MFAP5 to panel
Thoracic aortic aneurysm or dissection MFAP5 Rebecca Foulger reviewed MFAP5