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Thoracic aortic aneurysm or dissection v1.100 ABCC6 Ellen McDonagh Phenotypes for gene: ABCC6 were changed from to #614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste
Thoracic aortic aneurysm or dissection v1.99 ABCC6 Ellen McDonagh Publications for gene: ABCC6 were set to
Thoracic aortic aneurysm or dissection v1.90 ABCC6 Rebecca Whittington commented on gene: ABCC6: 264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm
Thoracic aortic aneurysm or dissection v1.89 ABCC6 Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Thoracic aortic aneurysm or dissection v1.88 ABCC6 Rebecca Whittington reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 ABCC6 Ellen McDonagh Source South West GLH was added to ABCC6.
Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal