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| Thoracic aortic aneurysm or dissection v1.90 | CHST14 | Rebecca Whittington commented on gene: CHST14: 601776 Ehlers-Danlos syndrome, musculocontractural type 1 - AR EDS with some cardiac involvement (valve anomolies/ASD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | CHST14 | Rebecca Whittington commented on gene: CHST14: Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | CHST14 | Rebecca Whittington reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | CHST14 |
Ellen McDonagh Source South West GLH was added to CHST14. Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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