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| Thoracic aortic aneurysm or dissection v1.90 | B4GALT7 | Rebecca Whittington commented on gene: B4GALT7: 130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | B4GALT7 | Rebecca Whittington reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | B4GALT7 |
Ellen McDonagh Source South West GLH was added to B4GALT7. Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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