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| Thoracic aortic aneurysm or dissection v1.90 | TNXB | Rebecca Whittington commented on gene: TNXB: 606408 Ehlers-Danlos syndrome, classic-like, 1 -syndromic CTD with quadricuspid aortic valve and MVP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | TNXB | Rebecca Whittington commented on gene: TNXB: Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | TNXB | Rebecca Whittington reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | TNXB |
Ellen McDonagh Source South West GLH was added to TNXB. Mode of inheritance for gene TNXB was changed from to BIALLELIC, autosomal or pseudoautosomal |
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