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| Thoracic aortic aneurysm or dissection v1.90 | FKBP14 | Rebecca Whittington commented on gene: FKBP14: 614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - rare aortic rupture and occasional patent ductus arteriosus, with other cardiac involvement being tricuspid and mitral valve insufficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | FKBP14 | Rebecca Whittington commented on gene: FKBP14: 6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | FKBP14 | Rebecca Whittington reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | FKBP14 |
Ellen McDonagh Source South West GLH was added to FKBP14. Mode of inheritance for gene FKBP14 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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